CLDN4, CPER, CPETR1, WBSCR8, Claudin-4, Clostridium perfringens enterotoxin receptor, CPE-R, CPE-receptor, Williams-Beuren syndrome chromosomal region 8 protein
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. [provided by RefSeq, Sep 2013],disease:Haploinsufficiency of CLDN4 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS), a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.,function:Plays a major role in tight junction-specific obliteration of the intercellular space.,similarity:Belongs to the claudin family.,subunit:Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3.,
