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MGP000666

Record overview

MGPD IDMGP000666
Gene ID1364
SpeciesHomo sapiens (Human)
Gene Nameclaudin 4
Gene Symbol CLDN4
SynonymsCPER; CPE-R; CPETR; CPETR1; WBSCR8; hCPE-R;
Alternate namesclaudin-4; CPE-receptor; Clostridium perfringens enterotoxin receptor 1; Williams-Beuren syndrome chromosomal region 8 protein;
Chromosome7
Map Location7q11.23
SummaryThe 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]
OrthologsView orthologs and multiple alignments for CLDN4

Proteins

claudin-4
Refseq ID:NP_001296
Protein GI:4502877
UniProt ID:O14493
mRNA ID:NM_001305
Length:209
RefSeq Status:
MASMGLQVMGIALAVLGWLAVMLCCALPMWRVTAFIGSNIVTSQTIWEGLWMNCVVQSTGQMQCKVYDSLLALPQDLQAARALVIISIIVAALGVLLSVV
GGKCTNCLEDESAKAKTMIVAGVVFLLAGLMVIVPVSWTAHNIIQDFYNPLVASGQKREMGASLYVGWAASGLLLLGGGLLCCNCPPRTDKPYSAKYSAA
RSAAASNYV
 
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