Gene Symbol | TBXAS1 |
Entrez Gene ID | 6916 |
Full Name | thromboxane A synthase 1 |
Synonyms | BDPLT14,CYP5,CYP5A1,GHOSAL,THAS,TS,TXAS,TXS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. |
Disorder MIM: | |
Disorder Html: | Ghosal hematodiaphyseal syndrome, 231095 (3); ?Thromboxane synthase deficiency, 614158 (1) |