Gene Symbol | LMNB2 |
Entrez Gene ID | 84823 |
Full Name | lamin B2 |
Synonyms | EPM9,LAMB2,LMN2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a B type nuclear lamin. The 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. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]. |
Disorder MIM: | |
Disorder Html: | {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3); ?Epilepsy, progressive myoclonic, 9, 616540 (3) |