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Protein Page:
TBXAS1 (human)

Overview
TBXAS1 Defects in TBXAS1 are the cause of Ghosal hematodiaphyseal dysplasia (GHDD). GHDD is a rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. Defects in TBXAS1 are the cause of thromboxane synthetase deficiency (TBXAS1 deficiency). It is characterized by hemorrhagic diathesis. Belongs to the cytochrome P450 family. Note: This description may include information from UniProtKB.
Protein type: Isomerase; Oxidoreductase; Lipid Metabolism - arachidonic acid; Membrane protein, multi-pass; EC 5.3.99.5; Membrane protein, integral
Cellular Component: endoplasmic reticulum membrane; integral to membrane
Molecular Function: oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; iron ion binding; thromboxane-A synthase activity; heme binding; monooxygenase activity
Biological Process: xenobiotic metabolic process; cyclooxygenase pathway; icosanoid metabolic process; arachidonic acid metabolic process
Reference #:  P24557 (UniProtKB)
Alt. Names/Synonyms: CYP5; CYP5A1; Cytochrome P450 5A1; cytochrome P450, family 5, subfamily A, polypeptide 1; FLJ52771; GHOSAL; platelet, cytochrome P450, subfamily V; TBXAS1; THAS; thromboxane A synthase 1 (platelet); Thromboxane-A synthase; TS; TXA synthase; TXAS; TXS
Gene Symbols: TBXAS1
Molecular weight: 60,518 Da
Basal Isoelectric point: 7.56  Predict pI for various phosphorylation states
Select Structure to View Below

TBXAS1

Protein Structure Not Found.


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