這個基因編碼縫隙連接蛋白家族的一個成員。間隙連接首先被電子顯微鏡描述為與貼壁細胞接觸的質膜上的區域性特殊結構這些結構是由細胞間通道組成的,這些通道促進了離子和小分子在細胞間的轉移。間隙連接蛋白,也被稱為連接蛋白,從不同組織的富集間隙連接物的餾分中純化。根據核苷酸和氨基酸水平的序列相似性,縫隙連接蛋白分為α和β兩類。這個基因的突變導致了多達50%的前語言,隱性耳聾[由RefSeq提供,2008年10月]
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]