基因名:
LMNA
产品别名:
CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; MADA; PRO1; LMNA; lamin A/C; lamin A/C; lamin; 70 kDa lamin; epididymis secretory sperm binding protein; lamin A/C-like 1; mandibuloacral dysplasia type A; prelamin-A/C; renal carcinoma antigen NY-REN-32; 核纤层蛋白A; 核纤层蛋白A/C(LMNA);
背景信息:
Nuclear lamins form a network of intermediate-type filaments at the nucleoplasmic site of the nuclear membrane. Two main subtypes of nuclear lamins can be distinguished, i.e. A type lamins and B type lamins. The A type lamins comprise a set of three proteins arising from the same gene by alternative splicing, i.e. lamin A, lamin C and lamin Adel 10, while the B type lamins include two proteins arising from two distinct genes, i.e. lamin B1 and lamin B2. Recent evidence has revealed that mutations in A-type lamins give rise to a range of rare but dominant genetic disorders, including Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy with conduction-system disease and Dunnigan-type familial partial lipodystrophy. In addition, the expression of A type lamins coincides with cell differentiation and as A type lamins specifically interact with chromatin, a role in the regulation of differential gene expression has been suggested for A type lamins.