ACADSB

Chr 10q26.13

acyl-CoA dehydrogenase short/branched chain

Aliases:: SBCAD, ACAD7
MANE:: ENST00000358776.7

OMIM: 600301 ↗NCBI: 36 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ACADSB · P45954

v62025-08-01

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

Mean pLDDT

91.6/ 100

Very high

432 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)0%
Low(50–70)1%
Very low(< 50)11%

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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

2-methylbutyryl-CoA dehydrogenase deficiency
0.78
hereditary disease
0.31
nutritional deficiency disease
0.25
microcephaly
0.11
nonpapillary renal cell carcinoma
0.08
early-onset non-syndromic cataract
0.07
oculocutaneous albinism type 1
0.07
posterior polymorphous corneal dystrophy
0.07
Familial ocular anterior segment mesenchymal dysgenesis
0.07
retinitis pigmentosa
0.07

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

Protein function (UniProt)

Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial

Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the proR-proR stereospecific alpha,beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, resulting in the formation of trans-2-enoyl-CoA ((2E)-enoyl-CoA) (PubMed:10832746, PubMed:11013134, PubMed:21430231, PubMed:7698750). Among the different mitochondrial acyl-CoA dehydrogenases, acts specifically on short and branched chain acyl-CoA derivatives such as (S)-2-methylbutyryl-CoA as well as short straight chain acyl-CoAs such as butyryl-CoA (butanoyl-CoA) (PubMed:10832746, PubMed:11013134, PubMed:21430231, PubMed:7698750). Plays an important role in the metabolism of L-isoleucine by catalyzing the dehydrogenation of 2-methylbutyryl-CoA, one of the steps of the L-isoleucine catabolic pathway (PubMed:10832746, PubMed:11013134). Can also act on valproyl-CoA, a metabolite of valproic acid, an antiepileptic drug (PubMed:8660691)