LIPI

lipase I

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG).

From NCBI Gene:

  • Familial hypertriglyceridemia

From UniProt:

Hypertriglyceridemia, familial (FHTR): 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. [MIM:145750]

Cytogenetic Location: 21q11.2, which is the long (q) arm of chromosome 21 at position 11.2

Molecular Location: base pairs 14,108,813 to 14,210,953 on chromosome 21 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 21q11.2, which is the long (q) arm of chromosome 21 at position 11.2
  • CT17
  • LPDL
  • mPA-PLA1 beta
  • PLA1C
  • PRED5