-
Product Directory
Custom Product
-
Services Offered
Custom Capabilities
-
LMNA - lamin A/C
Entrez Gene Name: lamin A/C
Entrez GeneID: Human(4000)
, Mouse(16905), Rat(60374)
, Mouse(16905), Rat(60374) Synonyms: CDCD1, CDDC, CMD1A, CMT2B1, Dhe, EMD2, FPL, FPLD, HGPS, IDC, LAMIN A, LAMIN A/C, Lamin C2, LAMININ A/C, LDP1, LFP, LGMD1B, Lmn, LMN1, LMNA, LMNC, LMNL1, PRO1
Gene Summary
- Human (4000): The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Through alternate splicing, this gene encodes three type A lamin isoforms. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq]
- Rat (60374): a component of the nuclear membrane on the nucleoplasmic side or lamina [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Disease:
|
Biological Process
apoptosis, cellular component disassembly involved in apoptosis, cellular response to hypoxia, establishment of cell polarity, establishment or maintenance of microtubule cytoskeleton polarity, muscle organ development, nuclear envelope organization, nucleus organization, positive regulation of cell aging, protein localization to nucleus, regulation of apoptosis, regulation of cell migration, spermatogenesis, sterol regulatory element binding protein import into nucleus, ventricular cardiac muscle cell development
Cellular Components
cytoplasm, insoluble fraction, intermediate filament, lamin filament, nuclear envelope, nuclear lamina, nuclear matrix, nucleus, perinuclear region of cytoplasm
Literature References
- 16481476Frock RL, Kudlow BA, Evans AM, Jameson SA, Hauschka SD, Kennedy BK. Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.Genes Dev 2006 Feb 15;20(4):486-500
- 16452503Ivorra C, Kubicek M, González JM, Sanz-González SM, Alvarez-Barrientos A, O'connor JE, Burke B, Andrés V. A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C.Genes Dev 2006 Feb 01;20(3):307-20
- 19201734Wojtanik KM, Edgemon K, Viswanadha S, Lindsey B, Haluzik M, Chen W, Poy G, Reitman M, Londos C. The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.J Lipid Res 2009 Jun 01;50(6):1068-79
Protein Domains
CAAX box, coiled-coil domain, head domain, Intermediate filament protein, Intermediate filament tail domain, protein binding, rod domain, structural molecule, Sumoylation motif, tail domain, zinc metalloprotease Ste24 cleavage site
Subcellular Locations
Cytoplasm, detergent resistant lipid raft fraction, detergent-soluble fraction, inner nuclear membrane, insoluble fractions, interchromatin granule cluster fractions, intermediate filaments, intranuclear region, nuclear envelope, nuclear foci, nuclear fraction, nuclear lamina, nuclear matrix, nuclear membrane fraction, nuclear pores, nuclear rim, nuclear scaffolds, nucleoli, nucleoplasm, Nucleus, perinuclear region, pH resistant lipid raft fraction