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MGP004706

UniProt Annotations

Entry Information
Gene Nameclaudin 14
Protein EntryCLD14_HUMAN
UniProt IDO95500
SpeciesHuman
Comments
Comment typeDescription
DiseaseDeafness, autosomal recessive, 29 (DFNB29) [MIM:614035]: 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. {ECO:0000269|PubMed:11163249, ECO:0000269|PubMed:22246673, ECO:0000269|PubMed:23235333}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. {ECO:0000250}.
SimilarityBelongs to the claudin family. {ECO:0000305}.
Subcellular LocationCell junction, tight junction. Cell membrane; Multi-pass membrane protein.
Tissue SpecificityLiver, kidney. Also found in ear.
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