ANXA8

Chr 10

annexin A8

Also known as: ANX8, CH17-360D5.2

NCBI Gene: 653145 ENSG00000265190 UniProt: P13928

The protein functions as an anticoagulant by indirectly inhibiting the thromboplastin-specific complex in the blood coagulation cascade. Based on the available information, no established Mendelian disease has been definitively associated with ANXA8 mutations in pediatric patients. While overexpression has been linked to acute myelocytic leukemia, pathogenic germline variants causing inherited disease have not been well-characterized for this gene.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)