LMNA

Name

lamin A/C

Type

protein-coding

Position

156,082,572–156,140,081 (+)

Aliases

CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC

Ensembl

ENSG00000160789

RefSeq RNA

NM_001257374.3, NM_001282624.2, NM_001282625.2, NM_001282626.2, NM_001406983.1

RefSeq protein

NP_001244303.1, NP_001269553.1, NP_001269554.1, NP_001269555.1, NP_001393912.1

The protein encoded by this gene is part of the nuclear lamina, 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, May 2022].

via MyGene.info

Wikidata facts

Image

Protein LMNA PDB 1ifr.png

via Wikidata · CC0