Claudin 9

Function

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

(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) entry into hepatic cells.

Involvement in disease

Deafness, autosomal recessive, 116

DFNB116

A form of non-syndromic deafness characterized by slowly progressive, moderate to profound 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

Expressed in the liver, in peripheral blood mononuclear cells and hepatocarcinoma cell lines.

Cellular localization

• Cell junction
• Tight junction
• Cell membrane
• Multi-pass membrane protein

Alternative names

Claudin-9, CLDN9

Database links

swissprot:O95484 omim:615799 swissprot:P56747 entrezGene:9074 entrezGene:9080