PLA2G6 phospholipase A2 group VI
Gene ID: 8398, updated on 27-Nov-2024Gene type: protein coding
Also known as: GVI; PLA2; INAD1; NBIA2; iPLA2; NBIA2A; NBIA2B; PARK14; PNPLA9; CaI-PLA2; IPLA2-VIA; iPLA2beta
- See all available tests in GTR for this gene
- Go to complete Gene record for PLA2G6
- Go to Variation Viewer for PLA2G6 variants
Summary
The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive Parkinson disease 14 | not available |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. GeneReviews: Not available | |
| Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk. GeneReviews: Not available | |
| Genome-wide association study identifies three loci associated with melanoma risk. GeneReviews: Not available | |
| Genome-wide association study identifies three new melanoma susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. GeneReviews: Not available | |
| Infantile neuroaxonal dystrophy MedGen: C0270724OMIM: 256600GeneReviews: PLA2G6-Associated Neurodegeneration, Neurodegeneration with Brain Iron Accumulation Disorders Overview | not available |
| Neurodegeneration with brain iron accumulation 2B | not available |
Genomic context
- Location:
- 22q13.1
- Sequence:
- Chromosome: 22; NC_000022.11 (38111495..38181830, complement)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLA2G6 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
- PLA2G6 @ LOVD
- 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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