Identity
HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
BCKDE1A,MSU,MSUD1,OVD1A
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: 593
MIM: 608348
HGNC: 986
Ensembl: ENSG00000248098
Variants:
dbSNP: 593
ClinVar: 593
TCGA: ENSG00000248098
COSMIC: BCKDHA
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 |
| 34511290 | 2021 | Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults. | 2 |
| 34511290 | 2021 | Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults. | 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 |
| 29673582 | 2018 | In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing. | 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 |
| 29673582 | 2018 | In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing. | 0 |
| 26830710 | 2016 | Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. | 3 |
| 26830710 | 2016 | Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. | 3 |
| 26453840 | 2015 | Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases. | 6 |
| 26453840 | 2015 | Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases. | 6 |
| 24268812 | 2014 | Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan. | 1 |
Citation
Dessen P
BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60724/bckdha-(branched-chain-keto-acid-dehydrogenase-e1-subunit-alpha)
