LMNA
LOCUS ID4000
GENE_SYMBOLLMNA
GENE NAMElamin A/C
SYNONYMNSFPL, IDC, LFP, CDDC, EMD2, FPLD, HGPS, LDP1, LMN1,
CHROMOSOME1
HOMOLOGENE ID41321
microRNAsNANA
GENE SUMMARY
The nuclear lami consists of a two-dimensiol 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 lami 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. Altertive splicing results in multiple transcript variants. Mutations in this gene lead to several diseasesEmery-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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. In the group with the lowest risk of overt nephropathy (n = 340), the ACE D polymorphism increased overt nephropathy risk twofold (p = 0.05), whereas a protective effect was observed for the LIPC CC genotype (p < 0.05).16117820