CLDN14A gene on chromosome 21q22.3 that encodes claudin-14, an integral membrane protein of the claudin family, the members of which form a physical barrier that prevents solutes and water from passing freely into the interstitial space between epithelial or endothelial cell sheets, and play critical roles in maintaining cell polarity and signal transduction. Claudin-14 is an integral membrane protein and a component of tight junction strands, which binds specifically to the WW domain of Yes-associated protein.
CLDN14 mutations cause an autosomal recessive form of nonsyndromic sensorineural deafness.
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