CLDN14

(redirected from claudin-14)

CLDN14

A 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.

Molecular pathology
CLDN14 mutations cause an autosomal recessive form of nonsyndromic sensorineural deafness.
References in periodicals archive ?
A common genetic variation in a gene called claudin-14 recently has been linked to a substantial increase in risk - roughly 65 percent - of getting kidney stones.
Typically, the claudin-14 gene is not active in the kidney.
When claudin-14 is idled, the kidney's filtering system works like it's supposed to.
Hou and his team have found that claudin-14 blocks calcium from entering passageways called tight junctions in cells that line the kidney and separate blood from urine.
Hou's research supports the theory that people with a common variation in claudin-14 lose the ability to regulate the gene's activity, increasing the risk of kidney stones.
Drugs that mimic these so-called microRNAs could keep the activity of claudin-14 in check and reduce the likelihood that stones would form.