TBXAS1 Chromosome 7
Thromboxane A synthase 1
Upload your DNA to see your personal genotypes for variants in TBXAS1.
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
RS137946697
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138612126
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140005285
Conflicting classifications of pathogenicity
Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
Health Risk
RS143035930
Conflicting classifications of pathogenicity
Health Risk
RS143125111
Conflicting classifications of pathogenicity
TBXAS1-related disorder, TBXAS1-related disorder
Health Risk
RS150139510
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199422117
Conflicting classifications of pathogenicity
Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
Health Risk
RS200644306
Conflicting classifications of pathogenicity
Health Risk
RS200663004
Conflicting classifications of pathogenicity
Thrombocytopenia, Abnormal bleeding, Inborn genetic diseases
Health Risk
RS201600575
Conflicting classifications of pathogenicity
Health Risk
RS368719678
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS3735354
Conflicting classifications of pathogenicity
TBXAS1-related disorder, TBXAS1-related disorder
Health Risk
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 |