CLDN9

Chr 16AR

claudin 9

Also known as: DFNB116

NCBI Gene: 9080 ENSG00000213937 UniProt: O95484 OMIM: 615799

This gene encodes claudin-9, an integral membrane protein that forms tight junctions and creates calcium-independent cell adhesion to prevent solutes and water from passing between epithelial cell sheets. Mutations cause autosomal recessive deafness (ARHL 116), specifically affecting sensory cells in the hearing organ. The gene shows low constraint to loss-of-function variation, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Jun 2010]

OMIM ResearchGenerating clinical summary…