靶标：
GJB2
产品别名：
BAPS； CX26； DFNA3； DFNA3A； DFNB1； DFNB1A； HID； KID； NSRD1； PPK； GJB2； gap junction protein beta 2； gap junction protein beta 2； gap junction beta-2 protein； connexin 26； gap junction beta 2 proteinc； gap junction protein, beta 2, 26kDa； mutant gap junction beta 2 protein； mutant gap junction protein beta 2； 间隙连接蛋白26(CX26)； 间隙连接蛋白26/GJB2；
背景信息：
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],
