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Merck

DMD

dystrophin

Synonimy:
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
Gatunek:
Human DMD (1756), Mouse Dmd (13405), Rat Dmd (24907), dog DMD (606758), chicken DMD (396236), Zebrafish dmd (83773), cow DMD (540755), Horse DMD (100051515), domestic cat DMD (100750243), sheep DMD (101119444) ...Więcej
Identyfikator UniProtKB:
P11532, E9PDN1, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48
Identyfikator genu:
  • Human(1756) Summary: The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
  • Mouse(13405) dystrophin, muscular dystrophy
  • Rat(24907) dystrophin
  • dog(606758) dystrophin
  • chicken(396236) dystrophin
  • Zebrafish(83773) dystrophin
  • cow(540755) dystrophin
  • Horse(100051515) dystrophin
  • domestic cat(100750243) Duchenne muscular dystrophy
  • sheep(101119444) dystrophin
  • naked mole-rat(101715920) dystrophin
  • domestic guinea pig(100727002) dystrophin

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Antibodies

Numer produktu
Opis
Reaktywność gatunkowa
Zastosowanie
ZRB1309
Anti-Dystrophin Antibody, clone 1G7, ZooMAb® Rabbit Monoclonal, recombinant, expressed in HEK 293 cells,
Reaktywność gatunkowa
human, mouse
Zastosowanie
ELISA
affinity binding assay
immunocytochemistry
immunohistochemistry
western blot
HPA023885
Anti-DMD antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Reaktywność gatunkowa
human
Zastosowanie
immunohistochemistry
HPA002725
Anti-DMD antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Reaktywność gatunkowa
human
Zastosowanie
immunohistochemistry
SAB1408565
Anti-DMD antibody produced in rabbit, purified immunoglobulin, buffered aqueous solution,
Reaktywność gatunkowa
human
Zastosowanie
western blot
SAB1402751
Monoclonal Anti-DMD antibody produced in mouse, clone 3A11, purified immunoglobulin, buffered aqueous solution,
Reaktywność gatunkowa
human
Zastosowanie
ELISA
immunoprecipitation (IP)
western blot