Identity
HGNC
LOCATION
6q14.1
LOCUSID
ALIAS
BCKDE1B,BCKDH E1-beta,E1B
FUSION GENES
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: 594
MIM: 248611
HGNC: 987
Ensembl: ENSG00000083123
Variants:
dbSNP: 594
ClinVar: 594
TCGA: ENSG00000083123
COSMIC: BCKDHB
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34883003 | 2022 | Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. | 0 |
| 34883003 | 2022 | Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. | 0 |
| 34187135 | 2021 | Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review. | 3 |
| 34511290 | 2021 | Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults. | 2 |
| 34187135 | 2021 | Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review. | 3 |
| 34511290 | 2021 | Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults. | 2 |
| 32515140 | 2020 | Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease. | 2 |
| 32515140 | 2020 | Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease. | 2 |
| 29306928 | 2018 | Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease. | 2 |
| 29307017 | 2018 | Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease. | 5 |
| 30298494 | 2018 | [Mutation analysis and prenatal diagnosis for a pedigree affected with maple syrup urine disease]. | 0 |
| 29306928 | 2018 | Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease. | 2 |
| 29307017 | 2018 | Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease. | 5 |
| 30298494 | 2018 | [Mutation analysis and prenatal diagnosis for a pedigree affected with maple syrup urine disease]. | 0 |
| 26830710 | 2016 | Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. | 3 |
Citation
Dessen P
BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60725/bckdhb-(branched-chain-keto-acid-dehydrogenase-e1-subunit-beta)
