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 weaver syndrome. Among its related pathways are Metabolism and Immune response Role of DAP12 receptors in NK cells. GO annotations related to this gene include binding and calcium-independent phospholipase A2 activity. An important paralog of this gene is PLA2G6.
UniProtKB/Swiss-Prot for PNPLA8 Gene
Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids.