基因名：
TJP2
产品别名：
C9DUPq21.11； DFNA51； DUP9q21.11； FHCA1； PFIC4； X104； ZO2； TJP2； tight junction protein 2； tight junction protein 2； tight junction protein ZO-2； Friedreich ataxia region gene X104 (tight junction protein ZO-2)； zona occludens 2； zonula occludens protein 2； 紧密连接蛋白2； 紧密连接蛋白2(TJP2)；
背景信息：
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].
