CLDN20

Chr 6

claudin 20

NCBI Gene: 49861 ENSG00000171217 UniProt: P56880

The protein is an integral membrane component of tight junctions that creates physical barriers to prevent solutes and water from passing between epithelial cell sheets through calcium-independent cell-adhesion activity. Mutations cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis, a renal tubulopathy affecting magnesium and calcium handling. This condition follows autosomal recessive inheritance and the gene shows low constraint to loss-of-function variation.

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. [provided by RefSeq, Jun 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.90

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)