Tight junctions represent one mode of cell-to-cell
adhesion in epithelial or endothelial cell sheets, forming
continuous seals around cells and serving as a physical barrier to
prevent solutes and water from passing freely through the
paracellular space. These junctions are comprised of sets of
continuous networking strands in the outwardly facing cytoplasmic
leaflet, with complementary grooves in the inwardly facing
extracytoplasmic leaflet. The protein encoded by this gene, a
member of the claudin family, is an integral membrane protein and a
component of tight junction strands. The encoded protein also binds
specifically to the WW domain of Yes-associated protein. Defects in
this gene are the cause of an autosomal recessive form of
nonsyndromic sensorineural deafness. It is also reported that four
synonymous variants in this gene are associated with kidney stones
and reduced bone mineral density. Several transcript variants
encoding the same protein have been found for this gene. [provided
by RefSeq].
