CLDN4

Full Name: Claudin 4

BACKGROUND: The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems.

Synonyms: Claudin 4; Williams-Beuren Syndrome Chromosomal Region 8 Protein; Clostridium Perfringens Enterotoxin Receptor 1; CPE-Receptor; CPETR1; WBSCR8; CPE-R