CLDN24

Chr 4

claudin 24

Also known as: CLDN21

NCBI Gene: 100132463 ENSG00000185758 UniProt: A6NM45 OMIM: 621614

The protein encoded by this gene is an integral membrane component of tight junctions that functions to prevent solutes and water from passing through the paracellular space between epithelial cell sheets and maintains cell polarity. The gene shows low constraint against loss-of-function variants (pLI near 0, LOEUF 1.85), suggesting that heterozygous loss-of-function mutations may be tolerated. Currently, no well-established human disease phenotypes have been definitively linked to mutations in this gene.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is 75% identical to the mouse homolog. This gene is upstream of the CLDN22 gene, which overlaps the WWC2 gene on the opposite strand in the genome.[provided by RefSeq, Aug 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.85

LOEUF

Multiple*

Mechanism· predicted