PTGIS Chromosome 20
Prostaglandin I2 synthase
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What This Gene Does
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 8
Locus Type
gene with protein product
Location
20q13.13
Ensembl
ENSG00000124212
Associated Conditions (2)
Childhood-onset schizophrenia
Essential hypertension
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61734270 | Health Risk | Likely pathogenic | Childhood-onset schizophrenia, Childhood-onset schizophrenia |
| RS13306026 | Health Risk | Pathogenic | Essential hypertension, Essential hypertension |