GJB2

This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]

本基因编码了隙间连接蛋白家族的一员。隙间连接最初通过电子显微镜被表征为接触粘附细胞质膜上的区域特异性结构。研究表明，这些结构由细胞间通道组成，该通道有助于离子和微小分子在细胞间的转移。从不同组织的富集隙间连接片段中纯化的隙间连接蛋白，也称为连接蛋白，在核苷酸和氨基酸序列水平上存在差异。根据这些差异，隙间连接蛋白被划分为两类，即α型和β型。该基因中的突变是导致高达50%的先于语言发展的隐性聋哑症的原因。[提供者：RefSeq，2008年10月]