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Protein Page:

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: EC; Isomerase; Lipid Metabolism - arachidonic acid; Membrane protein, integral; Membrane protein, multi-pass; Oxidoreductase
Chromosomal Location of Human Ortholog: 7q34
Cellular Component: endoplasmic reticulum membrane
Molecular Function: thromboxane-A synthase activity
Biological Process: cyclooxygenase pathway; icosanoid metabolic process
Disease: Bleeding Disorder, Platelet-type, 14; Ghosal Hematodiaphyseal Dysplasia
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


Protein Structure Not Found.

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