CLDN14
Function
Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the claudin family.
Tissue Specificity
Liver, kidney. Also found in ear.
Cellular localization
- Cell junction
- Tight junction
- Cell membrane
- Multi-pass membrane protein
Alternative names
UNQ777/PRO1571, CLDN14, Claudin-14