PLA2G4A Chromosome 1
Phospholipase A2 group IVA
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What This Gene Does
This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
"Phospholipases|C2 domain containing phospholipases"
Locus Type
gene with protein product
Location
1q31.1
Ensembl
ENSG00000116711
Associated Conditions (1)
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Key Variants
RS1571392612
Conflicting classifications of pathogenicity
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Health Risk
RS200264649
Conflicting classifications of pathogenicity
Health Risk
RS121434634
Pathogenic
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Health Risk
RS121434635
Pathogenic
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Health Risk
RS1557895416
Pathogenic
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Health Risk
RS1557901999
Pathogenic
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1571392612 | Health Risk | Conflicting classifications of pathogenicity | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder |
| RS200264649 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121434634 | Health Risk | Pathogenic | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder |
| RS121434635 | Health Risk | Pathogenic | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder |
| RS1557895416 | Health Risk | Pathogenic | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder |
| RS1557901999 | Health Risk | Pathogenic | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder |