Gene: TBXAS1

Alternate names for this Gene: BDPLT14|CYP5|CYP5A1|GHOSAL|THAS|TS|TXAS|TXS

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q34

Description of this Gene: thromboxane A synthase 1

Type of Gene: protein-coding

rs6951759 in TBXAS1 gene and Body Height PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

rs2240395 in TBXAS1 gene and Chemical and Drug Induced Liver Injury PMID 28043905 2017 Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study.

rs6952262 in TBXAS1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs140005285 in TBXAS1 gene and Ghosal Hematodiaphyseal Dysplasia PMID 18264100 2008 Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

rs10277664 in TBXAS1 gene and Schizophrenia PMID 24086445 2013 Genome-wide association analysis with gray matter volume as a quantitative phenotype in first-episode treatment-naïve patients with schizophrenia.

rs17837497 in TBXAS1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs6952262 in TBXAS1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.