CLDN3
Function
Barrier-forming claudin. Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
Involvement in disease
CLDN3 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Sequence Similarities
Belongs to the claudin family.
Cellular localization
- Cell junction
- Tight junction
- Cell membrane
- Multi-pass membrane protein
Alternative names
C7orf1, CPETR2, CLDN3, Claudin-3, Clostridium perfringens enterotoxin receptor 2, Rat ventral prostate.1 protein homolog, CPE-R 2, CPE-receptor 2, hRVP1