TJP2

This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

本基因编码的 zonula occluden 属于与膜结合的鸟苷酸激酶同源家族成员。编码的蛋白质作为上皮细胞和内皮细胞紧密连接屏障的组成部分，对于紧密连接的正确组装至关重要。已在患有高胆红素血症的患者中鉴定出本基因的突变，且包括此基因在内的 270 kb 基因组区域的拷贝数增加导致常染色体显性聋-51。对于本基因，已观察到编码多种异构体的选择性剪接转录本。[由 RefSeq 提供，2011 年 11 月]