Related Product Categories
Organism
Showing 1-30 of 39 results for "skeletal muscle cells"
CASQ1
calsequestrin 1 (fast-twitch, skeletal muscle)
Synonyms:
CASQ, PDIB1
Species:
Human CASQ1 (844), Mouse Casq1 (12372), Rat Casq1 (686019), dog CASQ1 (608401), cow CASQ1 (508394), domestic cat CASQ1 (101091082), sheep CASQ1 (101118652), Domestic Rabbit CASQ1 (100009095), naked mole-rat Casq1 (101720357), domestic guinea pig Casq1 (100730063)
Summary:
This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013
Products:
MYH8
myosin, heavy chain 8, skeletal muscle, perinatal
Synonyms:
MyHC-peri, MyHC-pn, gtMHC-F
Species:
Human MYH8 (4626), Mouse Myh8 (17885), Rat Myh8 (252942), domestic cat MYH8 (101084146), cow MYH8 (281339), Horse MYH8 (100062893), dog MYH8 (403808), domestic guinea pig Myh8 (100726177), naked mole-rat Myh8 (101697917), sheep MYH8 (101111723)
Summary:
Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009
Products:
ACTN2
actinin, alpha 2
Synonyms:
CMD1AA
Species:
Human ACTN2 (88), Mouse Actn2 (11472), Rat Actn2 (291245), Zebrafish actn2 (641575), domestic cat ACTN2 (101101415), cow ACTN2 (536607), Horse ACTN2 (100033870), dog ACTN2 (479191), chicken ACTN2 (396263), sheep ACTN2 (101116372), Domestic Rabbit ACTN2 (100350274), naked mole-rat Actn2 (101721630), domestic guinea pig Actn2 (100712846)
Summary:
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013
Products:
MYOG
myogenin (myogenic factor 4)
Synonyms:
MYF4, bHLHc3, myf-4
Species:
Human MYOG (4656), Mouse Myog (17928), Rat Myog (29148), Goat MYOG (100861395), sheep MYOG (443158), Domestic Rabbit MYOG (100415937), naked mole-rat Myog (101706331), domestic guinea pig Myog (100727419), Zebrafish myog (30200), domestic cat MYOG (101100276), cow MYOG (281343), dog MYOG (490224), chicken MYOG (374004)
Summary:
Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008
Products:
BVES
blood vessel epicardial substance
Synonyms:
HBVES, POP1, POPDC1
Species:
Human BVES (11149), Mouse Bves (23828), Rat Bves (365603), domestic guinea pig Bves (100726176), naked mole-rat Bves (101719869), sheep BVES (101121685), Domestic Rabbit BVES (100346465), Zebrafish bves (415107), cow BVES (539988), Horse BVES (100066283), domestic cat BVES (101091197), dog BVES (481944), chicken BVES (408032), fruit fly bves (33083)
Summary:
This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010
Products:
CKLF
chemokine-like factor
Synonyms:
C32, CKLF1, CKLF2, CKLF3, CKLF4, UCK-1
Species:
Human CKLF (51192), Mouse Cklf (75458), Rat Cklf (245978), sheep CKLF (101103916), domestic guinea pig Cklf (100727126), naked mole-rat Cklf (101705246), chicken CKLF (415795), dog CKLF (611371)
Summary:
The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CMTM1 (CKLF-like MARVEL transmembrane domain containing 1).[provided by RefSeq, Feb 2011
Products:
ENO3
enolase 3 (beta, muscle)
Synonyms:
GSD13, MSE
Species:
Human ENO3 (2027), Mouse Eno3 (13808), Rat Eno3 (25438), Domestic Rabbit ENO3 (100008769), naked mole-rat Eno3 (101720130), domestic guinea pig Eno3 (100723905), Zebrafish eno3 (378963), cow ENO3 (540303), Horse ENO3 (100061187), domestic cat ENO3 (101091162), dog ENO3 (479469), chicken ENO3 (396016)
Summary:
This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010
Products:
CASQ2
calsequestrin 2 (cardiac muscle)
Synonyms:
PDIB2
Species:
Human CASQ2 (845), Mouse Casq2 (12373), Rat Casq2 (29209), Zebrafish casq2 (114410), chicken CASQ2 (395198), dog CASQ2 (483134), domestic cat CASQ2 (101082678), cow CASQ2 (528555), domestic guinea pig Casq2 (100722777), naked mole-rat Casq2 (101723728), sheep CASQ2 (101105292), Domestic Rabbit CASQ2 (100009261)
Summary:
The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008
Products:
CACNA1S
calcium channel, voltage-dependent, L type, alpha 1S subunit
Synonyms:
CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP
Species:
Human CACNA1S (779), Mouse Cacna1s (12292), Rat Cacna1s (682930), chicken CACNA1S (395985), domestic cat CACNA1S (654399), cow CACNA1S (100337204), Horse CACNA1S (100034092), dog CACNA1S (490244), sheep CACNA1S (101108767), Domestic Rabbit CACNA1S (100009585), domestic guinea pig Cacna1s (100734741), naked mole-rat Cacna1s (101726232)
Summary:
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008
Products:
KRT79
keratin 79
Synonyms:
K6L, KRT6L
Species:
Human KRT79 (338785), Mouse Krt79 (223917), Rat Krt79 (683720), domestic guinea pig Krt79 (100713131), naked mole-rat Krt79 (101713963), sheep KRT79 (101108641), dog KRT79 (486515), domestic cat KRT79 (101080806), cow KRT79 (508202), Horse KRT79 (100061886)
Summary:
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009
Products:
HK2
hexokinase 2
Synonyms:
HKII, HXK2
Species:
Human HK2 (3099), Mouse Hk2 (15277), Rat Hk2 (25059), domestic guinea pig Hk2 (100732658), naked mole-rat Hk2 (101722401), sheep HK2 (101107690), Domestic Rabbit HK2 (100338214), Zebrafish hk2 (406339), Thale Cress HK2 (833552), chicken HK2 (374044), domestic cat HK2 (101089344), cow HK2 (788926), Horse HK2 (100009677), dog HK2 (475781)
Summary:
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009
Products:
CLIC2
chloride intracellular channel 2
Synonyms:
CLIC2b, MRXS32, XAP121
Species:
Human CLIC2 (1193), Rat Clic2 (294141), Zebrafish clic2 (436834), cow CLIC2 (532777), dog CLIC2 (492270), chicken CLIC2 (422178), naked mole-rat Clic2 (101725073), domestic guinea pig Clic2 (100731792), sheep CLIC2 (101106057), Domestic Rabbit CLIC2 (100328772)
Summary:
Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 2 is a member of the p64 family; the protein is detected in fetal liver and adult skeletal muscle tissue. This gene maps to the candidate region on chromosome X for incontinentia pigmenti. [provided by RefSeq, Jul 2008
Products:
CA3
carbonic anhydrase III, muscle specific
Synonyms:
CAIII, Car3
Species:
Human CA3 (761), chicken CA3 (420208), cow CA3 (513212), Horse CA3 (100050125), domestic cat CA3 (101094650), dog CA3 (487032), naked mole-rat Ca3 (101699292), domestic guinea pig Ca3 (100306971), sheep CA3 (101118196)
Summary:
Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008
Products:
YWHAG
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide
Synonyms:
14-3-3GAMMA
Species:
Human YWHAG (7532), Mouse Ywhag (22628), Rat Ywhag (56010), chicken YWHAG (427820), dog YWHAG (489818), domestic cat YWHAG (101084156), cow YWHAG (286862), sheep YWHAG (101116012), domestic guinea pig Ywhag (100725300), naked mole-rat Ywhag (101716439)
Summary:
This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008
Products:
CHRNG
cholinergic receptor, nicotinic, gamma (muscle)
Synonyms:
ACHRG
Species:
Human CHRNG (1146), Mouse Chrng (11449), Rat Chrng (25753), sheep CHRNG (101102965), naked mole-rat Chrng (101706620), domestic guinea pig Chrng (100733530), Zebrafish chrng (325080), cow CHRNG (281689), domestic cat CHRNG (101098733), dog CHRNG (486163), chicken CHRNG (429151)
Summary:
The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009
Products:
GPIHBP1
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
Synonyms:
GPI-HBP1
Species:
Human GPIHBP1 (338328), Mouse Gpihbp1 (68453), Rat Gpihbp1 (300027), domestic guinea pig Gpihbp1 (100728022), naked mole-rat Gpihbp1 (101697543), cow GPIHBP1 (512826), dog GPIHBP1 (609267)
Summary:
Dietary fats are packaged by intestine into triglyceride-rich lipoproteins called chylomicrons. The triglycerides in chylomicrons are hydrolyzed by lipoprotein lipase (LPL: MIM 609708) along the luminal surface of capillaries, mainly in heart, skeletal muscle, and adipose tissue. GPIHBP1 is a capillary endothelial cell protein that provides a platform for LPL-mediated processing of chylomicrons (Beigneux et al., 2007 [PubMed 17403372
Products:
MYOZ2
myozenin 2
Synonyms:
C4orf5, CMH16, CS-1
Species:
Human MYOZ2 (51778), Mouse Myoz2 (59006), Rat Myoz2 (295426), chicken MYOZ2 (422682), domestic cat MYOZ2 (101093852), cow MYOZ2 (540487), dog MYOZ2 (478524), sheep MYOZ2 (100526817), domestic guinea pig Myoz2 (100718708), naked mole-rat Myoz2 (101710935)
Summary:
The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011
Products:
MYH2
myosin, heavy chain 2, skeletal muscle, adult
Synonyms:
MYH2A, MYHSA2, MYHas8, MyHC-2A, MyHC-IIa
Species:
Human MYH2 (4620), Mouse Myh2 (17882), Rat Myh2 (691644), cow MYH2 (788772), dog MYH2 (608242), domestic cat MYH2 (101085328), Horse MYH2 (791236), domestic guinea pig Myh2 (100727012), Domestic Rabbit MYH2 (100009054), naked mole-rat Myh2 (101701056)
Summary:
Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009
Products:
KCNG1
potassium voltage-gated channel, subfamily G, member 1
Synonyms:
K13, KCNG, KV6.1, kH2
Species:
Human KCNG1 (3755), Mouse Kcng1 (241794), Rat Kcng1 (296395), Zebrafish kcng1 (796774), chicken KCNG1 (419347), dog KCNG1 (485929), Horse KCNG1 (100052484), cow KCNG1 (539813), domestic cat KCNG1 (101098369), sheep KCNG1 (101123485), domestic guinea pig Kcng1 (100723146), naked mole-rat Kcng1 (101722608)
Summary:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008
Products:
KCNF1
potassium voltage-gated channel, subfamily F, member 1
Synonyms:
IK8, KCNF, KV5.1, kH1
Species:
Human KCNF1 (3754), Mouse Kcnf1 (382571), Rat Kcnf1 (298908), domestic guinea pig Kcnf1 (100714352), naked mole-rat Kcnf1 (101725666), sheep KCNF1 (101103556), chicken KCNF1 (428652), domestic cat KCNF1 (101095006), cow KCNF1 (505879), Horse KCNF1 (100056963), dog KCNF1 (482968)
Summary:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008
Products:
ACTA1
actin, alpha 1, skeletal muscle
Synonyms:
ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3
Species:
Human ACTA1 (58), Mouse Acta1 (11459), Rat Acta1 (29437), chicken ACTA1 (421534), Horse ACTA1 (100065454), cow ACTA1 (281592), domestic cat ACTA1 (101095439), dog ACTA1 (488984), naked mole-rat Acta1 (101721383), domestic guinea pig Acta1 (100716933), sheep ACTA1 (101107662)
Summary:
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008
Products:
MSTN
myostatin
Synonyms:
GDF8, MSLHP
Species:
Human MSTN (2660), Mouse Mstn (17700), Rat Mstn (29152), Goat MSTN (100860887), sheep MSTN (443449), domestic guinea pig Mstn (100735599), naked mole-rat Mstn (101696375), chicken MSTN (373964), domestic cat MSTN (101081322), cow MSTN (281187), Horse MSTN (100033832), dog MSTN (403433)
Summary:
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. This gene is thought to encode a secreted protein which negatively regulates skeletal muscle growth. [provided by RefSeq, Jul 2008
Products:
P2RX6
purinergic receptor P2X, ligand-gated ion channel, 6
Synonyms:
P2RXL1, P2X6, P2XM
Species:
Human P2RX6 (9127), Mouse P2rx6 (18440), Rat P2rx6 (25041), dog P2RX6 (486436), domestic cat P2RX6 (101083550), Horse P2RX6 (100051842), cow P2RX6 (618262), naked mole-rat P2rx6 (101702346), domestic guinea pig P2rx6 (100732430)
Summary:
The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009
Products:
EPC1
enhancer of polycomb homolog 1 (Drosophila)
Synonyms:
Epl1
Species:
Human EPC1 (80314), Mouse Epc1 (13831), Rat Epc1 (100362678), Zebrafish epc1 (566686), Horse EPC1 (100060812), cow EPC1 (534386), domestic cat EPC1 (101093194), dog EPC1 (477970), Thale Cress EPC1 (824749), chicken EPC1 (420471), sheep EPC1 (101113778), Domestic Rabbit EPC1 (100353948), domestic guinea pig Epc1 (100726382), naked mole-rat Epc1 (101718758)
Summary:
This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012
Products:
ACTA2
actin, alpha 2, smooth muscle, aorta
Synonyms:
AAT6, ACTSA, MYMY5
Species:
Human ACTA2 (59), Mouse Acta2 (11475), Rat Acta2 (81633), Zebrafish acta2 (322509), chicken ACTA2 (423787), domestic cat ACTA2 (101093547), cow ACTA2 (515610), Horse ACTA2 (100062175), dog ACTA2 (477587), naked mole-rat Acta2 (101718388), domestic guinea pig Acta2 (100722917), sheep ACTA2 (101121051), Domestic Rabbit ACTA2 (100009271)
Summary:
The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008
Products:
SOX6
SRY (sex determining region Y)-box 6
Synonyms:
HSSOX6, SOXD
Species:
Human SOX6 (55553), Mouse Sox6 (20679), Rat Sox6 (293165), Zebrafish sox6 (567154), Horse SOX6 (100056348), domestic cat SOX6 (101095371), dog SOX6 (476871), chicken SOX6 (423068), cow SOX6 (534321), sheep SOX6 (101116170), naked mole-rat Sox6 (101697252), domestic guinea pig Sox6 (100715958)
Summary:
This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009
Products:
AKAP6
A kinase (PRKA) anchor protein 6
Synonyms:
ADAP100, ADAP6, AKAP100, PRKA6, mAKAP
Species:
Human AKAP6 (9472), Mouse Akap6 (238161), Rat Akap6 (64553), naked mole-rat Akap6 (101720403), domestic guinea pig Akap6 (100725038), sheep AKAP6 (101117111), Domestic Rabbit AKAP6 (100353954), Zebrafish akap6 (100002625), cow AKAP6 (537810), Horse AKAP6 (100056405), domestic cat AKAP6 (101088495), dog AKAP6 (490644), chicken AKAP6 (423314)
Summary:
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008
Products:
TCF12
transcription factor 12
Synonyms:
CRS3, HEB, HTF4, HsT17266, bHLHb20
Species:
Human TCF12 (6938), Mouse Tcf12 (21406), Rat Tcf12 (25720), domestic guinea pig Tcf12 (100717047), naked mole-rat Tcf12 (101703066), cow TCF12 (509039), sheep TCF12 (101119478), Zebrafish tcf12 (407985), Horse TCF12 (100068843), domestic cat TCF12 (101083852), dog TCF12 (100684199), chicken TCF12 (396334)
Summary:
The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008
Products:
KCND1
potassium voltage-gated channel, Shal-related subfamily, member 1
Synonyms:
KV4.1
Species:
Human KCND1 (3750), Mouse Kcnd1 (16506), Rat Kcnd1 (116695), Zebrafish kcnd1 (100001681), domestic cat KCND1 (101098521), cow KCND1 (518384), Horse KCND1 (100051922), dog KCND1 (612548), sheep KCND1 (101106661), Domestic Rabbit KCND1 (100008836), domestic guinea pig Kcnd1 (100733079), naked mole-rat Kcnd1 (101713711)
Summary:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This gene is expressed at moderate levels in all tissues analyzed, with lower levels in skeletal muscle. [provided by RefSeq, Jul 2008
Products:
KCNA7
potassium voltage-gated channel, shaker-related subfamily, member 7
Synonyms:
HAK6, KV1.7
Species:
Human KCNA7 (3743), Mouse Kcna7 (16495), Rat Kcna7 (365241), sheep KCNA7 (101109038), domestic guinea pig Kcna7 (100726725), naked mole-rat Kcna7 (101708760), cow KCNA7 (540492), dog KCNA7 (100855855), domestic cat KCNA7 (101083818)
Summary:
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008
Products:

Social Media

LinkedIn icon
Twitter icon
Facebook Icon
Instagram Icon

MilliporeSigma

Research. Development. Production.

We are a leading supplier to the global Life Science industry with solutions and services for research, biotechnology development and production, and pharmaceutical drug therapy development and production.

© 2021 Merck KGaA, Darmstadt, Germany and/or its affiliates. All Rights Reserved.

Reproduction of any materials from the site is strictly forbidden without permission.