| LMNA |
| LOCUS ID | 4000 | ||||||||||
| GENE_SYMBOL | LMNA | ||||||||||
| GENE NAME | lamin A/C | ||||||||||
| SYNONYMNS | FPL, IDC, LFP, CDDC, EMD2, FPLD, HGPS, LDP1, LMN1, | ||||||||||
| CHROMOSOME | 1 | ||||||||||
| HOMOLOGENE ID | 41321 |
| microRNAs | NA | NA |
| 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 |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. 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 |