PLA2G7

Chr 6

phospholipase A2 group VII

Also known as: LDL-PLA2, LP-PLA2, PAFAD, PAFAH

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPlatelet-activating factor acetylhydrolase deficiency
1
Active trials
45
Pubs (1 yr)
P/LP submissions
P/LP missense
1.71
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.71LOEUF
pLI 0.000
Z-score -1.17
OE 1.26 (0.941.71)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.05Z-score
OE missense 1.20 (1.081.32)
274 obs / 229.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.26 (0.941.71)
00.351.4
Missense OE?1.20 (1.081.32)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 29 / 23.0Missense obs/exp: 274 / 229.1Syn Z: -0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PLA2G7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.