CLDN4

Chr 7

claudin 4

Also known as: CPE-R, CPER, CPETR, CPETR1, WBSCR8, hCPE-R

NCBI Gene: 1364 ENSG00000189143 UniProt: O14493 OMIM: 602909

Claudin-4 is an integral membrane protein that regulates epithelial tight junction barrier properties and paracellular ion transport, particularly chloride permeability in renal collecting ducts. CLDN4 is deleted in Williams-Beuren syndrome, a multisystem neurodevelopmental disorder. The gene shows low constraint to loss-of-function variation (LOEUF 1.827), suggesting that complete loss may be tolerated when occurring as part of larger deletions.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.83

LOEUF

Multiple*

Mechanism· predicted