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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for LMNA (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4000
Official gene symbolLMNA
Full namelamin A/C
Aliases,CDCD1,CDDC,CMD1A,CMT2B1,EMD2,FPL,FPLD,HGPS,IDC,LDP1,LFP,LGMD1B,LMN1,LMNC,PRO1,
Gene summaryThe 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. Through alternate splicing, this gene encodes three type A lamin isoforms. 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]
LocationChromosome: 1   Locus: 1q21.2-q21.3
Gene position156084461 - 156109878  Map Viewer
Gene orientationplus
Gene size25418 bp
Gene sequence
OMIM ID150330