TBXAS1 Gene
Thromboxane A Synthase 1
Gene Information Card
| Symbol | TBXAS1 |
|---|---|
| Full Name | Thromboxane A Synthase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 6916 ncbi.nlm.nih.gov/gene/6916 |
| Ensembl ID | ENSG00000077782 |
| UniProt ID | P24557 |
| OMIM ID | 274180 |
| HGNC ID | 11609 |
| Aliases | TXAS, CYP5A1, TS, THAS, TXS |
Description
TBXAS1 encodes thromboxane A synthase 1, a cytochrome P450 family member that catalyzes the conversion of prostaglandin H2 to thromboxane A2, a potent vasoconstrictor and platelet aggregator. The enzyme is primarily expressed in platelets, lung, kidney, and macrophages. Mutations in TBXAS1 cause Ghosh disease (thromboxane A synthase deficiency), characterized by a bleeding tendency due to impaired platelet aggregation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ghosh disease (thromboxane A synthase deficiency) | Loss-of-function mutations reduce thromboxane A2 production, impairing platelet aggregation and hemostasis. | OMIM #274180; ClinVar |
| Bleeding disorder, platelet-type, 14 | Deficient thromboxane synthesis leads to prolonged bleeding time and easy bruising. | ClinVar; NCBI GeneReviews |
| Thrombotic disorders (protective role) | Gain-of-function variants may increase thromboxane A2, promoting platelet aggregation and thrombosis risk. | COSMIC; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Platelets | 15.1 | High |
| Spleen | 6.2 | Low |
| Liver | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| A549 (lung) | 9.8 | Medium expression |
| THP-1 (monocyte) | 11.2 | High expression |
| MEG-01 (megakaryocyte) | 14.6 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.613C>T (p.Arg205*) | Nonsense | <0.01% | Loss of function; premature truncation |
| c.907G>A (p.Gly303Arg) | Missense | <0.01% | Loss of function; reduced enzyme activity |
| c.1186C>T (p.Arg396Cys) | Missense | <0.01% | Loss of function; impaired substrate binding |
| c.1339G>A (p.Gly447Arg) | Missense | <0.01% | Loss of function; unstable protein |
Mutation functional classification
Loss of Function (LOF)
Most reported TBXAS1 mutations are loss-of-function, leading to thromboxane A2 deficiency and bleeding disorders (Ghosh disease).
Gain of Function (GOF)
No confirmed gain-of-function mutations in TBXAS1; theoretical variants could increase thromboxane synthesis and thrombosis risk.
Dominant Negative (DN)
Not reported; TBXAS1 deficiency is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ['Arachidonic acid metabolism (KEGG hsa00590)']
• ['Prostaglandin and thromboxane synthesis (Reactome R-HSA-2162123)']
• ['Platelet activation
• signaling and aggregation (Reactome R-HSA-76002)']
Protein Summary
Thromboxane A synthase 1 (UniProt P24557) is a 533-amino acid microsomal cytochrome P450 enzyme anchored in the endoplasmic reticulum membrane. It converts prostaglandin H2 into thromboxane A2, a key mediator of platelet aggregation and vasoconstriction. The protein contains a heme-binding domain essential for catalytic activity. Deficiency leads to bleeding disorders, while overexpression may contribute to thrombotic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBXAS1 Knockout HEK293 Cell Line | EDJ-KQ5893 | Human | 6916 | Details Get a Quote |
| TBXAS1 Knockout HeLa Cell Line | EDJ-KQ28127 | Human | 6916 | Details Get a Quote |
| TBXAS1 Knockout A-549 Cell Line | EDJ-KQ29394 | Human | 6916 | Details Get a Quote |
| TBXAS1 Knockout HCT 116 Cell Line | EDJ-KQ29395 | Human | 6916 | Details Get a Quote |
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