BCKDHA

Chr 19q13.2

branched chain keto acid dehydrogenase E1 subunit alpha

Aliases:: MSU
MANE:: ENST00000269980.7

OMIM: 608348 ↗NCBI: 593 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

BCKDHA · P12694

v62025-08-01

Predicted Aligned Error matrix for BCKDHA — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.6/ 100

Very high

445 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)2%
Low(50–70)2%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

maple syrup urine disease type 1A
0.84
maple syrup urine disease
0.76
hereditary disease
0.51
intermediate maple syrup urine disease
0.37
intermittent maple syrup urine disease
0.37
classic maple syrup urine disease
0.37
atrial fibrillation
0.14
Intellectual disability
0.11
androgenetic alopecia
0.06
type 2 diabetes mellitus
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

Together with BCKDHB forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the branched-chain amino-acids valine, leucine and isoleucine producing CO2 and acyl-CoA which is subsequently utilized to produce energy. The E1 subunit catalyzes the first step with the decarboxylation of the alpha-ketoacid forming an enzyme-product intermediate. A reductive acylation mediated by the lipoylamide cofactor of E2 extracts the acyl group from the E1 active site for the next step of the reaction