Gene: PLA2G7
Alternate names for this Gene: LDL-PLA2|LP-PLA2|PAFAD|PAFAH
Gene Summary: The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.
Gene is located in Chromosome: 6
Location in Chromosome : 6p12.3
Description of this Gene: phospholipase A2 group VII
Type of Gene: protein-coding
rs76863441 in
PLA2G7 gene and
Acute Coronary Syndrome
PMID 28753643 2017 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.
rs76863441 in
PLA2G7 gene and
Coronary heart disease
PMID 28753643 2017 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.
rs201256712 in
PLA2G7 gene and
Platelet-Activating Factor Acetylhydrolase Deficiency
PMID 9412624 1997 A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke.
PMID 8675689 1996 Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase.
PMID 9759612 1998 A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension.
PMID 9245731 1997 Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation.
PMID 9472966 1998 Identification of the G994--> T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary artery disease in Japanese men.