Entity Details

Primary name TBXAS1
Entity type gene
Source Source Link

Details

PrimaryID6916
RefseqGeneNG_008422
SymbolTBXAS1
Namethromboxane A synthase 1
Chromosome7
Location7q34
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTHAS_HUMAN

GO terms

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GOName
GO:0001516 prostaglandin biosynthetic process
GO:0004497 monooxygenase activity
GO:0004796 thromboxane-A synthase activity
GO:0005506 iron ion binding
GO:0005789 endoplasmic reticulum membrane
GO:0006690 icosanoid metabolic process
GO:0016021 integral component of membrane
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0019371 cyclooxygenase pathway
GO:0020037 heme binding
GO:0036134 12-hydroxyheptadecatrienoic acid synthase activity
GO:0106256 hydroperoxy icosatetraenoate dehydratase activity

Diseases

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Disease IDSourceNameDescription
231095 OMIMGhosal hematodiaphyseal dysplasia (GHDD)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
TBXAS1UBCBioGRID23314748 details
TBXAS1EEF1A2BioGRID, IntAct28514442 details
TBXAS1DKC1BioGRID, IntAct30021884 details
TBXAS1NHLRC2BioGRID30397336 details