TBXAS1 Chromosome 7

Thromboxane A synthase 1
42 variants 42 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
Cytochrome P450 family 5
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000059377
Associated Conditions (8)
Inborn genetic diseases
Ghosal hematodiaphyseal dysplasia
TBXAS1-related disorder
Thrombocytopenia
Abnormal bleeding
Ovarian serous cystadenocarcinoma
Intellectual disability
Thromboxane synthetase deficiency
Key Variants
All Variants (42)
RSID Category Clinical Significance Conditions
RS137946697 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138612126 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140005285 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS143035930 Health Risk Conflicting classifications of pathogenicity
RS143125111 Health Risk Conflicting classifications of pathogenicity TBXAS1-related disorder, TBXAS1-related disorder
RS150139510 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199422117 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS200644306 Health Risk Conflicting classifications of pathogenicity
RS200663004 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Abnormal bleeding, Inborn genetic diseases
RS201600575 Health Risk Conflicting classifications of pathogenicity
RS368719678 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS3735354 Health Risk Conflicting classifications of pathogenicity TBXAS1-related disorder, TBXAS1-related disorder
RS41311778 Health Risk Conflicting classifications of pathogenicity TBXAS1-related disorder, TBXAS1-related disorder
RS545470216 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS55856189 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Ovarian serous cystadenocarcinoma, Ghosal hematodiaphyseal dysplasia
RS560818343 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS5766 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS6138 Health Risk Conflicting classifications of pathogenicity TBXAS1-related disorder, TBXAS1-related disorder
RS752926435 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762628361 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Inborn genetic diseases, Ghosal hematodiaphyseal dysplasia
RS765137338 Health Risk Conflicting classifications of pathogenicity
RS765686939 Health Risk Conflicting classifications of pathogenicity
RS766799764 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS780924927 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Inborn genetic diseases, Ghosal hematodiaphyseal dysplasia
RS781107536 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS8192833 Health Risk Conflicting classifications of pathogenicity
RS1203779981 Health Risk Likely pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS149988492 Health Risk Likely pathogenic Thromboxane synthetase deficiency, Ghosal hematodiaphyseal dysplasia, Thromboxane synthetase deficiency
RS2535758512 Health Risk Likely pathogenic
RS760698812 Health Risk Likely pathogenic Ghosal hematodiaphyseal dysplasia, Thromboxane synthetase deficiency, Ghosal hematodiaphyseal dysplasia
RS1046174429 Health Risk Pathogenic
RS199422114 Health Risk Pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS199422116 Health Risk Pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS570470967 Health Risk Pathogenic
RS748473096 Health Risk Pathogenic
RS749789077 Health Risk Pathogenic
RS763326515 Health Risk Pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS766421283 Health Risk Pathogenic
RS767660162 Health Risk Pathogenic
RS774927838 Health Risk Pathogenic
RS775012519 Health Risk Pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS794727053 Health Risk Pathogenic/Likely pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
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