LIPI, LPDL, PRED5, Lipase member I, LIPI, Cancer/testis antigen 17, CT17, LPD lipase, Membrane-associated phosphatidic acid-selective phospholipase A1-beta, mPA-PLA1 beta
The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014],disease:Defects in LIPI may be a cause of susceptibility to familial hypertrigliceridemia [MIM:145750]. Familial hypertriglyceridemia is a common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis.,enzyme regulation:Inhibited by sodium vanadate.,function:Hydrolyzes specifically phosphatidic acid (PA) to produce lysophosphatidic acid (LPA).,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the AB hydrolase superfamily. Lipase family.,subcellular location:May associate with lipid draft.,subunit:Interacts with heparin with a high affinity.,tissue specificity:Expressed in testis. Expressed exclusively at the connecting piece of the sperm.,
