Aliases for CLDN4 Gene
External Ids for CLDN4 Gene
Previous HGNC Symbols for CLDN4 Gene
Previous GeneCards Identifiers for CLDN4 Gene
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]
GeneCards Summary for CLDN4 Gene
CLDN4 (Claudin 4) is a Protein Coding gene. Diseases associated with CLDN4 include Williams-Beuren Syndrome and Ovarian Cystadenoma. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview and Cell junction organization. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is CLDN3.
UniProtKB/Swiss-Prot Summary for CLDN4 Gene
Channel-forming tight junction protein that mediates paracellular chloride transport in the kidney. Plays a critical role in the paracellular reabsorption of filtered chloride in the kidney collecting ducts. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.