Gene
TBXAS1
thromboxane A synthase 1
- HGNC 11609↗(opens in a new tab)
- Ensembl gene ENSG00000059377↗(opens in a new tab)
- NCBI Gene 6916↗(opens in a new tab)
Summary
- Cytogenetic location
- 7q34
- Coordinates
- Chromosome 7: 139,829,264–140,020,293 (GRCh38)
- Exons
- 13 exons across 191 kb
- Protein
- 533 amino acids
- Also known as
- CYP5, CYP5A1, THAS, TXS, TXAS, TS
- MANE Select transcript
- ENST00000448866.7NM_001061.7
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads TBXAS1 yet. The test sequences your whole genome, so your data includes it all the same.
How TBXAS1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 191 kb; 1,602 of those bases code for the protein.
How a genome test reads TBXAS1
9
positions in TBXAS1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 191 kb of TBXAS1, introns included, not only the 1.9 kb of exons.
Traits linked to TBXAS1
The Human Phenotype Ontology lists these as features of the rare conditions TBXAS1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of blood and blood-forming tissues
- Bone marrow failure
- Erythroid dysplasia
- Increased immature red blood cells
- Iron deficiency anemia
- Low number of red blood cells or hemoglobin
- Megakaryocyte dysplasia
- Myelofibrosis
- Normocytic anemia
Show 3 more traits
Abnormality of limbs
- Bowed legs
- Broad wide portion of long bone
- Cortical thickening of long bone diaphyses
- Diaphyseal dysplasia
- Thickening of shaft or central part of long bones
- Abnormality of the shankbone
- Abnormality of the thighbone
- Abnormality of the wide portion of a long bone
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TBXAS1 gene: thromboxane A synthase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbxas1
Dante Labs. TBXAS1 gene: thromboxane A synthase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbxas1
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