PDK3

Chr Xp22.11

pyruvate dehydrogenase kinase 3

MANE:: ENST00000379162.9

OMIM: 300906 ↗NCBI: 5165 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PDK3 · Q15120

v62025-08-01

Predicted Aligned Error matrix for PDK3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.4/ 100

Very high

406 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)13%
Low(50–70)3%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy or pain disorder
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Undiagnosed metabolic disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary neuropathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Possible mitochondrial disorder - nuclear genes
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

Charcot-Marie-Tooth disease X-linked dominant 6
0.57
X-linked Charcot-Marie-Tooth disease type 6
0.53
Congenital lactic acidosis
0.26
nervous system disorder
0.25
Pain
0.21
response to xenobiotic stimulus
0.21
Charcot-Marie-Tooth disease
0.17
cancer
0.05
neoplasm
0.04
nonpapillary renal cell carcinoma
0.04

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

Protein function (UniProt)

[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial

Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species