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PNPLA4

Function

Has abundant triacylglycerol lipase activity (PubMed:15364929, PubMed:16150821, PubMed:17603008). Transfers fatty acid from triglyceride to retinol, hydrolyzes retinylesters, and generates 1,3-diacylglycerol from triglycerides (PubMed:17603008). Additionally possesses acylglycerol transacylase and phospholipase A2 activities (PubMed:15364929, PubMed:17603008).

Involvement in disease

Defects in PNPLA4 may play a role in mitochondrial disorders characterized by complex IV deficiency.

Tissue Specificity

Expressed in all tissues examined, including heart, brain, placenta, lung, liver, muscle, kidney, pancreas and spleen.

Cellular localization

Alternative names

DXS1283E, GS2, PNPLA4, Patatin-like phospholipase domain-containing protein 4, Calcium-independent phospholipase A2-eta, Protein GS2, iPLA2-eta

swissprot:P41247 omim:300102 entrezGene:8228