LPCAT2 Chromosome 16

Lysophosphatidylcholine acyltransferase 2
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
"1-acylglycerol-3-phosphate O-acyltransferases|EF-hand domain containing|Lysophospholipid acyltransferases"
Locus Type
gene with protein product
Location
16q12.2
Ensembl
ENSG00000087253
Associated Conditions (1)
Multicentric osteolysis nodulosis arthropathy spectrum
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1567390809 Health Risk Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
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