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Protein Page:
TBXAS1 (human)

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: Membrane protein, integral; Isomerase; Membrane protein, multi-pass; EC; Lipid Metabolism - arachidonic acid; Oxidoreductase
Chromosomal Location of Human Ortholog: 7q34-q35
Cellular Component: endoplasmic reticulum membrane; integral to membrane
Molecular Function: oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; thromboxane-A synthase activity; iron ion binding; heme binding; monooxygenase activity
Biological Process: xenobiotic metabolic process; cyclooxygenase pathway; icosanoid metabolic process; arachidonic acid metabolic process
Disease: Ghosal Hematodiaphyseal Dysplasia; Bleeding Disorder, Platelet-type, 14
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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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  

Show Multiple Sequence Alignment


LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.



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