Aliases for PNPLA8 Gene
External Ids for PNPLA8 Gene
Previous GeneCards Identifiers for PNPLA8 Gene
This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]
GeneCards Summary for PNPLA8 Gene
PNPLA8 (Patatin Like Phospholipase Domain Containing 8) is a Protein Coding gene. Diseases associated with PNPLA8 include Mitochondrial Myopathy With Lactic Acidosis and Mitochondrial Myopathy. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include binding and calcium-independent phospholipase A2 activity.
UniProtKB/Swiss-Prot Summary for PNPLA8 Gene
Calcium-independent phospholipase A2, which promotes cellular membrane hydrolysis and prostaglandin production (PubMed:10744668, PubMed:15695510). Catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, phosphytidylserine and to a lower extent phosphatidylcholine (PubMed:10744668). Cleaves membrane phospholipids (PubMed:15695510). Participates in the generation of lipid second messengers through the mobilization of arachidonic acid in response to cellular stimuli. Synthesizes 2-arachidonoyl lysophosphatidylcholine, a key branch point metabolite in eicosanoid signaling (PubMed:15908428). Participates in the lipid plasticity of myocardium, plays a role in the generation of signaling metabolites and has a prominent effect on the modulaton of energy storage and utilization (PubMed:17213206). Essential for maintaining efficient bioenergetic mitochondrial function through tailoring mitochondrial membrane lipid metabolism and composition (By similarity).