Lamin Gene Wiki

Lamin proteins are thought to be involved in nuclear stability chromatin structure and gene expression.

Lamin gene wiki. The histone mark h4k20me3 is involved in hutchinson gilford progeria syndrome caused by de novo mutations that occurs in a gene that encodes lamin a lamin a is made but isn t processed properly. Lamin a c congenital muscular dystrophy cmd l cmd congenital muscular dystrophy associated to the lmna gene or emery dreifuss muscular dystrophy ii is a disease that it is included in laminopathies. Zmpste24 is a metalloproteinase required for the processing of prelamin a to lamin a a structural component of the nuclear lamina. The lmna gene encoding two nuclear envelope proteins lamins a and c lamin a c maps to chromosome 1q21 and has been associated with five distinct pathologies including dunnigan type familial partial lipodystrophy a condition that is characterized by subcutaneous fat loss and is invariably associated with insulin resistance and diabetes.

80 9 80 92 mb pubmed search wikidata view edit human view edit mouse lamin b2 is a protein that in humans is encoded by the lmnb2 gene. The lamin family of proteins make up the matrix and are highly conserved in evolution. This illness implies like other muscular dystrophies muscle weakness motor. It is the second of two type b nuclear.

Two isoforms lamins a and c can be created from this gene via alternative splicing. Patients with classical laminopathy have mutations in the gene coding for lamin a c lmna gene. This creates a high amount of homology between the isoforms. The lamin family of proteins make up the matrix and are highly conserved in evolution.

Unlike lamin c lamin a is generated in a precursor form called prelamin a. During mitosis the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin b1 is a protein that in humans is encoded by the lmnb1 gene. Vertebrate lamins consist of two types a and b.

16907 ensembl ensg00000176619 ensmusg00000062075 uniprot q03252 p21619 refseq mrna nm 032737 nm 010722 nm 001347140 refseq protein np 116126 np 001334069 np 034852 location ucsc chr 19. Mutations in the gene coding for lamin b2 lmnb2 gene have been linked to barraquer simons syndrome and duplication in the gene coding for lamin b1 lmnb1 gene cause autosomal dominant leukodystrophy. Gene context of nuclear lamina. Here we describe the derivation of mice carrying an autosomal recessive mutation in the lamin a gene encoding a type lamins major components of the nuclear lamina.

The nuclear lamina consists of a two dimensional matrix of proteins located next to the inner nuclear membrane. Progeria is caused by mutations that weaken the structure of the cell nucleus making normal cell division difficult. Laminopathies are caused among other mutations to mutations in lmna a gene that synthetizes lamins a and c.