基因名：
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：
Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family. GJBs (gap junction proteins or connexins) play crucial functional roles associated with these channels. Immunohistochemical staining of human cochlear cells demonstrated high levels of GJB2 expression. Mutations in GJB2 are associated with genetically derived hearing impairments, including autosomal recessive nonsyndromic deafness.
