GJA1

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

该基因隶属于连接蛋白基因家族。编码的蛋白质是缝隙连接的组成部分，缝隙连接由一系列细胞间通道组成，这些通道为低分子量物质从细胞到细胞的扩散提供了途径。编码的蛋白质是心脏中缝隙连接的主要蛋白质，这些缝隙连接被认为在心脏同步收缩和胚胎发育中发挥着至关重要的作用。一个相关的无内含子伪基因已被定位到第5号染色体上。该基因中的突变与眼齿指发育不良、常染色体隐性颅骨 metaphyseal发育不良和心脏畸形有关。[由RefSeq提供，2014年5月]