PTGIS Chromosome 20

Prostaglandin I2 synthase
2 variants 2 Health Risk

Upload your DNA to see your personal genotypes for variants in PTGIS.

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
Sign Up to Analyze Your DNA Log In