Gene Symbol | LMNA |
Entrez Gene ID | 4000 |
Full Name | lamin A/C |
Synonyms | CDCD1,CDDC,CMD1A,CMT2B1,EMD2,FPL,FPLD,FPLD2,HGPS,IDC,LDP1,LFP,LGMD1B,LMN1,LMNC,LMNL1,MADA,PRO1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. Alternative splicing results in multiple transcript variants. 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, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3); Cardiomyopathy, dilated, 1A, 115200 (3); Lipodystrophy, familial partial, type 2, 151660 (3); Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3); Charcot-Marie-Tooth disease, type 2B1, 605588 (3); Muscular dystrophy, congenital, 613205 (3); Muscular dystrophy, limb-girdle, type 1B, 159001 (3); Mandibuloacral dysplasia, 248370 (3); Hutchinson-Gilford progeria, 176670 (3); Restrictive dermopathy, lethal, 275210 (3); Heart-hand syndrome, Slovenian type, 610140 (3); Malouf syndrome, 212112 (3) |