ACADS

Chr 12q24.31

acyl-CoA dehydrogenase short chain

Aliases:: SCAD, ACAD3
MANE:: ENST00000242592.9

OMIM: 606885 ↗NCBI: 35 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ACADS · P16219

v62025-08-01

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

Mean pLDDT

93.6/ 100

Very high

412 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)

DDG2P
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
Arthrogryposis
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

short chain acyl-CoA dehydrogenase deficiency
0.83
hereditary disease
0.48
type 2 diabetes mellitus
0.33
substance-related disorder
0.27
diabetes mellitus
0.26
schizophrenia
0.18
hepatocellular carcinoma
0.10
neoplasm
0.09
hyperlipoproteinemia type V
0.09
Hyperlipoproteinemia type 5
0.09

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

Protein function (UniProt)

Short-chain specific acyl-CoA dehydrogenase, mitochondrial

Short-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (By similarity). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (By similarity). Among the different mitochondrial acyl-CoA dehydrogenases, short-chain specific acyl-CoA dehydrogenase acts specifically on acyl-CoAs with saturated 4 to 6 carbons long primary chains (PubMed:11134486, PubMed:21237683)