CLDN14 Antibody – Rabbit Polyclonal

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]

Claudin-14: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. Defects in CLDN14 are the cause of deafness autosomal recessive type 29 (DFNB29). DFNB29 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Belongs to the claudin family.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Cell adhesion

Chromosomal Location of Human Ortholog: 21q22.3

Cellular Component: tight junction; endoplasmic reticulum; plasma membrane; integral to membrane

Molecular Function: identical protein binding; structural molecule activity

Biological Process: intercellular junction assembly and maintenance; protein complex assembly; calcium-independent cell-cell adhesion

Disease: Deafness, Autosomal Recessive 29