ACAD8

Chr 11q25

acyl-CoA dehydrogenase family member 8

MANE:: ENST00000281182.9

OMIM: 604773 ↗NCBI: 27034 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ACAD8 · Q9UKU7

v62025-08-01

Predicted Aligned Error matrix for ACAD8 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.2/ 100

Very high

415 residues

Confidence breakdown

Very high(≥ 90)93%
Confident(70–90)0%
Low(50–70)0%
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)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

isobutyryl-CoA dehydrogenase deficiency
0.79
hereditary disease
0.47
autoimmune disorder of central nervous system
0.26
gallbladder disorder
0.24
ankylosing spondylitis
0.10
colorectal carcinoma
0.07
neonatal intrahepatic cholestasis due to citrin deficiency
0.05
alcohol drinking
0.04
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
0.04
combined oxidative phosphorylation deficiency 52
0.04

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

Protein function (UniProt)

Isobutyryl-CoA dehydrogenase, mitochondrial

Isobutyryl-CoA dehydrogenase which catalyzes the conversion of 2-methylpropanoyl-CoA to (2E)-2-methylpropenoyl-CoA in the valine catabolic pathway (PubMed:11013134, PubMed:12359132, PubMed:16857760). To a lesser extent, also able to catalyze the oxidation of (2S)-2-methylbutanoyl-CoA (PubMed:11013134, PubMed:12359132)