BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha)

2014-11-01  

Identity

HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
BCKDE1A,MSU,MSUD1,OVD1A
FUSION GENES

Other Information

Locus ID:

NCBI: 593
MIM: 608348
HGNC: 986
Ensembl: ENSG00000248098

Variants:

dbSNP: 593
ClinVar: 593
TCGA: ENSG00000248098
COSMIC: BCKDHA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000248098ENST00000269980P12694
ENSG00000248098ENST00000269980A0A024R0K3
ENSG00000248098ENST00000457836P12694
ENSG00000248098ENST00000541315H0YH31
ENSG00000248098ENST00000542943F5GXU9
ENSG00000248098ENST00000544905H0YH20

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Propanoate metabolismKEGGko00640
Valine, leucine and isoleucine degradationKEGGhsa00280
Propanoate metabolismKEGGhsa00640
Metabolic pathwaysKEGGhsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
229566862012Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.80
167575742006Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes.57
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
246034362014Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.8
179222172007Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.5
264538402015Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.3
293070172018Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.3
153222872004Conformational stability and thermodynamic characterization of the lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase.2
190850712008Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.2
194563212009Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.2

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