rs1588081022

This variant is located in the TJP2 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

1 submitter1 publication

Cholestasis, progressive familial intrahepatic, 4

About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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