CLDN14

claudin 14

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 29

From UniProt:

Deafness, autosomal recessive, 29 (DFNB29): A form of non-syndromic 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. [MIM:614035]

Cytogenetic Location: 21q22.3, which is the long (q) arm of chromosome 21 at position 22.3

Molecular Location: base pairs 36,460,621 to 36,576,569 on chromosome 21 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 21q22.3, which is the long (q) arm of chromosome 21 at position 22.3
  • DFNB29