ANXA13

Chr 8

annexin A13

Also known as: ANX13, ISA

NCBI Gene: 312 ENSG00000104537 UniProt: P27216

The protein binds to membranes containing phosphatidylserine or phosphatidylglycerol in a calcium-dependent manner and is associated with endothelial cell and enterocyte plasma membranes. ANXA13 mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by seizures, developmental delay, and neurological regression. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.08

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)