CLDN4, Official Symbol CLDN4provided by HGNC Official Full Name claudin 4provided by HGNC Primary source HGNC:HGNC:2046 See related Ensembl:ENSG00000189143 MIM:602909; AllianceGenome:HGNC:2046 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CPER; CPE-R; CPETR; CPETR1; WBSCR8; hCPE-R Summary 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] Orthologs mouse all