Synonyms: C9DUPq21.11,DFNA51,DUP9q21.11,Friedreich ataxia region gene X104 (tight junction protein ZO-2),MGC26306 ,PFIC4,Tight junction protein 2,Tight junction protein ZO 2,Tight junction protein ZO-2,TJP2,X104,ZO 2,ZO-2,ZO2,ZO2,Zona occludens 2,Zona occludens protein 2,Zonula occludens protein 2
Background: 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.