Claudin-14 is a
protein that in humans is encoded by the CLDN14gene.[5][6] It belongs to a related family of proteins called
claudins.
The protein encoded by CLDN14 is an
integral membrane protein and a component of
tight junctions, one mode of
cell-to-cell adhesion in
epithelial or
endothelial cell sheets. Tight junctions form continuous seals around cells and serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space.
These junctions are composed of sets of continuous networking protein strands in the outer surface of the cell membrane, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The CLDN14 protein also binds to
WW domain of
Yes-associated protein.
Defects in CLDN14 are the cause of an autosomal recessive form of nonsyndromic
sensorineural deafness. Two
transcript variants encoding the same protein have been found for this gene.[6]
There are also suggestions that CLDN14 plays a role in tumour
angiogenesis (blood vessel formation),[7] as deletion of a single copy of this gene leads to tight junction defects and leaky blood vessels in a
mouse model.
Polymorphisms in CLDN14 are
associated with kidney stone risk. It is likely that additional roles for claudins in the pathogenesis of other types of kidney diseases have yet to be uncovered.
Uyguner O, Emiroglu M, Uzumcu A, et al. (2004). "Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss". Clin. Genet. 64 (1): 65–9.
doi:
10.1034/j.1399-0004.2003.00101.x.
PMID12791041.
S2CID29823828.