PLA2G7 phospholipase A2 group VII
Gene ID: 7941, updated on 2-Nov-2024Gene type: protein coding
Also known as: PAFAD; PAFAH; LP-PLA2; LDL-PLA2
- See all available tests in GTR for this gene
- Go to complete Gene record for PLA2G7
- Go to Variation Viewer for PLA2G7 variants
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.[provided by RefSeq, Dec 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. GeneReviews: Not available | |
| Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. GeneReviews: Not available | |
| Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study. GeneReviews: Not available | |
| Platelet-activating factor acetylhydrolase deficiency | See labs |
Genomic context
- Location:
- 6p12.3
- Sequence:
- Chromosome: 6; NC_000006.12 (46704201..46735721, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLA2G7 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PLA2G7 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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