Description
Product Characteristics:
The Claudin superfamily consists of many structurally related proteins in humans. These proteins are important structural and functional components of tight junctions in paracellular transport. Claudins are located in both epithelial and endothelial cells in all tight junction-bearing tissues. Three classes of proteins are known to localize to tight junctions, including the claudins, Occludin and Junction adhesion molecules. Claudins, which consist of four transmembrane domains and two extracellular loops, make up tight junction strands. Claudin expression is often highly restricted to specfic regions of different tissues and may have an important role in transcellular transport through tight junctions. Claudin-14 is a multi-pass membrane protein that is expressed in liver, kidney and ear. Defects in the gene encoding claudin-14 are the cause of non-syndromic sensorineural deafness autosomal recessive type 29 (DFNB29), a form of hearing loss resulting from damage to either nerve pathways or neural receptors of the inner ear.
Subcellular location: Cell membrane
Synonyms: Claudin-14, CLDN14, DFNB29, Human CLDN14 gene, OTTHUMP00000109046, OTTHUMP00000109049, OTTMUSP00000021531, UNQ777/PRO1571.
Target Information: 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, Jun 2010]