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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACADS
acyl-CoA dehydrogenase short chain
Chromosome 12 · 12q24.31
NCBI Gene: 35Ensembl: ENSG00000122971.10HGNC: HGNC:90UniProt: B4DUH1
69PubMed Papers
21Diseases
0Drugs
93Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
acyl-CoA dehydrogenase activityprotein bindingfatty acid beta-oxidation using acyl-CoA dehydrogenasemitochondrionshort chain acyl-CoA dehydrogenase deficiencygenetic disordertype 2 diabetes mellitusdiabetes mellitus
✦AI Summary

ACADS (acyl-CoA dehydrogenase short chain) encodes a mitochondrial enzyme catalyzing the first step of short-chain fatty acid β-oxidation, specifically dehydrogenating acyl-CoAs with 4-6 carbon saturated chains to form trans-2-enoyl-CoA intermediates 12. This process is essential for energy production from fats and occurs within the mitochondrial matrix 3. ACADS functions alongside related dehydrogenases (HADHA, HADHB, ECHS1) in coordinated fatty acid catabolism 3. Short-chain acyl-CoA dehydrogenase deficiency (SCADD), caused by biallelic ACADS variants, represents a rare inborn error of metabolism detected through newborn screening via elevated C4-acylcarnitine 45. Population studies reveal SCADD incidence of approximately 1/30,649 in eastern China 5, with ethnic clustering in Slovak Roma populations 4. However, clinically ascertained patients show variable presentations—ranging from asymptomatic detection to hypotonia, motor delay, and cyclic vomiting 6—while unselected population studies demonstrate that carriers of both rare and common ACADS variants lack documented metabolic disease 7. Recently, ACADS emerged as a potential tumor suppressor in colorectal cancer, where downregulation correlates with poor prognosis 8. ACADS suppresses cancer cell proliferation through ROS-triggered autophagy and CDK2 degradation, establishing ACADS-autophagy as a negative axis of cancer progression 8.

Sources cited
1
ACADS acts specifically on acyl-CoAs with saturated 4-6 carbon chains
PMID: 11134486
2
ACADS acts specifically on acyl-CoAs with saturated 4-6 carbon chains
PMID: 21237683
3
ACADS catalyzes fatty acid β-oxidation, interacts functionally with HADHA, HADHB, and ECHS1
PMID: 26045367
4
SCADD is detected by elevated C4-acylcarnitine; high prevalence of specific ACADS variants in Slovak Roma population
PMID: 29678161
5
SCADD incidence is 1/30,649 in eastern coastal China; common ACADS variants c.1031A>G and c.1130C>T identified
PMID: 36787440
6
SCADD patients show variable clinical manifestations including hypotonia, motor delay, and cyclic vomiting
PMID: 27466294
7
Clinically relevant ACADS variants in unselected population lack evidence of metabolic disease
PMID: 36549199
8
ACADS is downregulated in colorectal cancer and suppresses cancer cell proliferation via ROS-triggered autophagy and CDK2 degradation
PMID: 40719216
Disease Associationsⓘ21
short chain acyl-CoA dehydrogenase deficiencyOpen Targets
0.84Strong
genetic disorderOpen Targets
0.48Moderate
type 2 diabetes mellitusOpen Targets
0.36Weak
diabetes mellitusOpen Targets
0.29Weak
substance-related disorderOpen Targets
0.25Weak
schizophreniaOpen Targets
0.21Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
major depressive disorderOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
hypertriglyceridemia 2Open Targets
0.07Suggestive
bipolar disorderOpen Targets
0.07Suggestive
familial hypercholesterolemiaOpen Targets
0.05Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.05Suggestive
Benign familial choreaOpen Targets
0.05Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.04Suggestive
corneal degenerationOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.04Suggestive
X-linked retinal dysplasiaOpen Targets
0.04Suggestive
Acyl-CoA dehydrogenase short-chain deficiencyUniProt
Pathogenic Variants93
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided|Inborn genetic diseases|ACADS-related disorder
★★☆☆2026→ Residue 177
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)Pathogenic
not provided|Deficiency of butyryl-CoA dehydrogenase|See cases|Inborn genetic diseases|Colon adenocarcinoma|Familial cancer of breast|Lung cancer
★★☆☆2026→ Residue 330
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|ACADS-related disorder
★★☆☆2026→ Residue 344
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided
★★☆☆2026→ Residue 380
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided|Inborn genetic diseases
★★☆☆2025→ Residue 107
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided
★★☆☆2025→ Residue 104
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided
★★☆☆2025→ Residue 353
NM_000017.4(ACADS):c.596C>T (p.Ala199Val)Likely pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided|ACADS-related disorder
★★☆☆2025→ Residue 199
NM_000017.4(ACADS):c.815G>A (p.Arg272His)Pathogenic
not provided|Deficiency of butyryl-CoA dehydrogenase
★★☆☆2025→ Residue 272
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided
★★☆☆2025→ Residue 325
NM_000017.4(ACADS):c.1095G>T (p.Gln365His)Pathogenic
not provided|Deficiency of butyryl-CoA dehydrogenase
★★☆☆2025→ Residue 365
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided|ACADS-related disorder|Inborn genetic diseases
★★☆☆2025→ Residue 46
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided
★★☆☆2025→ Residue 383
NM_000017.4(ACADS):c.989G>A (p.Arg330His)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided
★★☆☆2025→ Residue 330
NM_000017.4(ACADS):c.682_683del (p.Glu228fs)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided|ACADS-related disorder
★★☆☆2025→ Residue 228
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln)Pathogenic
not provided|Deficiency of butyryl-CoA dehydrogenase
★★☆☆2025→ Residue 325
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)Pathogenic
not provided|Deficiency of butyryl-CoA dehydrogenase
★★☆☆2025→ Residue 398
NM_000017.4(ACADS):c.125_135del (p.Leu42fs)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided
★★☆☆2025→ Residue 42
NM_000017.4(ACADS):c.492_513del (p.Ala165fs)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided
★★☆☆2025→ Residue 165
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)Pathogenic
Deficiency of butyryl-CoA dehydrogenase|not provided
★★☆☆2025→ Residue 1
View on ClinVar ↗
Related Genes
HADHBProtein interaction100%ACAA2Protein interaction100%ACAA1Protein interaction98%ACADLProtein interaction98%HSD17B4Protein interaction98%MCCC2Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
19%
Lung
8%
Bone Marrow
6%
Ovary
4%
Brain
4%
Gene Interaction Network
Click a node to explore
ACADSHADHBACAA2ACAA1ACADLHSD17B4MCCC2
PROTEIN STRUCTURE
Preparing viewer…
PDB2VIG · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.46–0.85]
RankingsWhere ACADS stands among ~20K protein-coding genes
  • #6,779of 20,598
    Most Researched69
  • #827of 5,498
    Most Pathogenic Variants93 · top quartile
  • #7,410of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedACADS
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.
PMID: 36787440
Mol Genet Genomic Med · 2023
0.90
3
ACADS Suppresses Proliferation of Colorectal Cancer Cells via ROS-Triggered Autophagy and Degradation of CDK2.
PMID: 40719216
FASEB J · 2025
0.80
4
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
PMID: 29678161
BMC Med Genet · 2018
0.70
5
Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
PMID: 36549199
Mol Genet Metab · 2023
0.60