PDHB

Chr 3p14.3

pyruvate dehydrogenase E1 subunit beta

Aliases:: PDHE1B, E1beta
MANE:: ENST00000302746.11

OMIM: 179060 ↗NCBI: 5162 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PDHB · P11177

v62025-08-01

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

Mean pLDDT

94.3/ 100

Very high

359 residues

Confidence breakdown

Very high(≥ 90)92%
Confident(70–90)1%
Low(50–70)1%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

pyruvate dehydrogenase E1-beta deficiency
0.80
pyruvate dehydrogenase deficiency
0.67
neurodegenerative disease
0.39
systemic lupus erythematosus
0.29
benign digestive system neoplasm
0.28
systemic sclerosis
0.23
central nervous system infectious disorder
0.22
type 2 diabetes mellitus
0.22
hereditary disease
0.19
Leigh syndrome
0.19

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

Protein function (UniProt)

Pyruvate dehydrogenase E1 component subunit beta, mitochondrial

Together with PDHA1 forms the heterotetrameric E1 subunit of the pyruvate dehydrogenase (PDH) complex (PubMed:17474719, PubMed:19081061). The PDH complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle (Probable). It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3) (Probable). The E1 subunit catalyzes both the thiamine pyrophosphate (TPP)-dependent decarboxylation of pyruvate and the reductive acetylation of a lipoyl group covalently linked to the lipoyl-bearing domains of E2 (PubMed:19081061)