Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 875
MIM: 613381
HGNC: 1550
Ensembl: ENSG00000160200
Variants:
dbSNP: 875
ClinVar: 875
TCGA: ENSG00000160200
COSMIC: CBS
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA450423 | l-methionine | Chemical | Literature, MultilinkAnnotation | associated | 24651765 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38488417 | 2024 | Association between CBS gene T833C, G919A and 844ins68 polymorphisms in the 8th exon region and coronary artery disease: a meta-analysis. | 0 |
| 38563463 | 2024 | Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria. | 1 |
| 38575566 | 2024 | Architecture and regulation of filamentous human cystathionine beta-synthase. | 1 |
| 38488417 | 2024 | Association between CBS gene T833C, G919A and 844ins68 polymorphisms in the 8th exon region and coronary artery disease: a meta-analysis. | 0 |
| 38563463 | 2024 | Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria. | 1 |
| 38575566 | 2024 | Architecture and regulation of filamentous human cystathionine beta-synthase. | 1 |
| 36476832 | 2023 | ERα/ERβ-directed CBS transcription mediates E2β-stimulated hUAEC H2S production. | 4 |
| 37864623 | 2023 | The Role of Cystathionine-β-Synthase, H(2)S, and miRNA-377 in Hypoxic-Ischemic Encephalopathy: Insights from Human and Animal Studies. | 0 |
| 37949228 | 2023 | Disease-causing cystathionine β-synthase linker mutations impair allosteric regulation. | 1 |
| 38238950 | 2023 | [Exploration of cystathionine β-synthase and cystathionine γ-lyase gene expression poor prognostic predictive value with the application of bioinformatics data mining in liver cancer]. | 0 |
| 36476832 | 2023 | ERα/ERβ-directed CBS transcription mediates E2β-stimulated hUAEC H2S production. | 4 |
| 37864623 | 2023 | The Role of Cystathionine-β-Synthase, H(2)S, and miRNA-377 in Hypoxic-Ischemic Encephalopathy: Insights from Human and Animal Studies. | 0 |
| 37949228 | 2023 | Disease-causing cystathionine β-synthase linker mutations impair allosteric regulation. | 1 |
| 38238950 | 2023 | [Exploration of cystathionine β-synthase and cystathionine γ-lyase gene expression poor prognostic predictive value with the application of bioinformatics data mining in liver cancer]. | 0 |
| 34495791 | 2022 | Understanding the role of R266K mutation in cystathionine β-synthase (CBS) enzyme: an in silico study. | 0 |
Citation
Dessen P
CBS (cystathionine beta-synthase)
Atlas Genet Cytogenet Oncol Haematol. 2004-05-01
Online version: http://atlasgeneticsoncology.org/gene/364/cbs-(cystathionine-beta-synthase)
