PLA2G7 Chromosome 6
Phospholipase A2 group VII
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What This Gene Does
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.[provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Phospholipases
Locus Type
gene with protein product
Location
6p12.3
Ensembl
ENSG00000146070
Associated Conditions (1)
Platelet-activating factor acetylhydrolase deficiency
Key Variants
RS1420368113
Likely pathogenic
Platelet-activating factor acetylhydrolase deficiency, Platelet-activating factor acetylhydrolase deficiency
Health Risk
RS142974898
Likely pathogenic
Platelet-activating factor acetylhydrolase deficiency, Platelet-activating factor acetylhydrolase deficiency
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1420368113 | Health Risk | Likely pathogenic | Platelet-activating factor acetylhydrolase deficiency, Platelet-activating factor acetylhydrolase deficiency |
| RS142974898 | Health Risk | Likely pathogenic | Platelet-activating factor acetylhydrolase deficiency, Platelet-activating factor acetylhydrolase deficiency |