PLA2G10

Chr 16

phospholipase A2 group X

Also known as: GXPLA2, GXSPLA2, SPLA2, sPLA2-X

NCBI Gene: 8399 ENSG00000069764 UniProt: O15496

The protein is a secretory calcium-dependent phospholipase A2 that hydrolyzes phospholipids to release fatty acids and lysophospholipids, playing key roles in lipid metabolism, inflammation, gut epithelial function, and antimicrobial defense. Mutations cause autosomal recessive benign recurrent intrahepatic cholestasis type 2, a liver disorder characterized by episodic cholestasis with pruritus and jaundice. The gene shows tolerance to loss-of-function variation, consistent with the recessive inheritance pattern of associated disease.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the phospholipase A2 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This calcium-dependent enzyme hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids. In one example, this enzyme catalyzes the release of arachidonic acid from cell membrane phospholipids, thus playing a role in the production of various inflammatory lipid mediators, such as prostaglandins. The encoded protein may promote the survival of breast cancer cells through its role in lipid metabolism. [provided by RefSeq, Nov 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.93

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)