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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACADVL
acyl-CoA dehydrogenase very long chain
Chromosome 17 Β· 17p13.1
NCBI Gene: 37Ensembl: ENSG00000072778.21HGNC: HGNC:92UniProt: B3KPA6
143PubMed Papers
21Diseases
0Drugs
507Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
epithelial cell differentiationfatty acid beta-oxidation using acyl-CoA dehydrogenaselong-chain fatty acyl-CoA dehydrogenase activityprotein bindingvery long chain acyl-CoA dehydrogenase deficiencygenetic disorderlong chain acyl-CoA dehydrogenase deficiencyrhabdomyolysis
✦AI Summary

ACADVL encodes very long-chain acyl-CoA dehydrogenase (VLCAD), a mitochondrial enzyme catalyzing the first rate-limiting step of fatty acid beta-oxidation 1. VLCAD specifically dehydrogenates saturated fatty acyl-CoA thioesters with 12-24 carbon chains, generating trans-2-enoyl-CoA and transferring electrons to electron transfer flavoprotein as the physiologic electron acceptor. This reaction initiates fatty acid catabolism for ATP production. ACAdvl mutations cause VLCAD deficiency, an autosomal recessive fatty acid oxidation disorder with phenotypic heterogeneity correlating strongly with genotype 1. Severe mutations eliminating enzyme activity cause early-onset childhood disease with cardiomyopathy and high mortality, while hypomorphic mutations permitting residual activity result in milder childhood presentations or adult-onset skeletal muscle disease with exercise-triggered rhabdomyolysis 1. Newborn screening identifies suspected VLCAD deficiency, though 57% of screen-positive individuals carry only single variants, highlighting diagnostic complexity 2. Clinically, VLCAD deficiency management requires specialized nutrition guidelines balancing fat intake and carbohydrate provision to prevent hypoketotic hypoglycemia and metabolic decompensation 3. Beyond primary deficiency, VLCAD downregulation in tumor-infiltrating CD8+ T cells impairs anti-tumor immunity by promoting long-chain fatty acid accumulation and lipotoxicity, suggesting ACADVL restoration as a potential immunotherapy strategy 4.

Sources cited
1
VLCAD catalyzes the initial rate-limiting step in mitochondrial fatty acid beta-oxidation and genotype-phenotype correlation exists between mutation type and clinical severity
PMID: 9973285
2
Molecular analysis of 693 newborn screen-positive individuals identified 94 pathogenic ACADVL variants and 57% of individuals had carrier status with single variants
PMID: 26385305
3
Evidence-based nutrition management guidelines for VLCAD deficiency establish harmonized treatment across all ages focusing on fat and carbohydrate management
PMID: 33093005
4
VLCAD downregulation in tumor-infiltrating CD8+ T cells causes long-chain fatty acid accumulation and impaired mitochondrial function; enforced ACADVL expression enhances T cell survival
PMID: 32491160
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
very long chain acyl-CoA dehydrogenase deficiencyOpen Targets
0.87Strong
genetic disorderOpen Targets
0.53Moderate
long chain acyl-CoA dehydrogenase deficiencyOpen Targets
0.50Moderate
rhabdomyolysisOpen Targets
0.46Moderate
Acute rhabdomyolysisOpen Targets
0.44Moderate
Abnormal circulating enzyme concentrationOpen Targets
0.42Moderate
hypertrophic cardiomyopathyOpen Targets
0.38Weak
metabolic myopathyOpen Targets
0.37Weak
Abnormality of the musculatureOpen Targets
0.36Weak
cardiac arrhythmiaOpen Targets
0.34Weak
myopathyOpen Targets
0.33Weak
autism spectrum disorderOpen Targets
0.33Weak
intellectual developmental disorder 62Open Targets
0.32Weak
pancreatic hypoplasia-diabetes-congenital heart disease syndromeOpen Targets
0.27Weak
age-related hearing impairmentOpen Targets
0.22Weak
liver diseaseOpen Targets
0.17Weak
hearing lossOpen Targets
0.15Weak
hypertensionOpen Targets
0.15Weak
response to xenobiotic stimulusOpen Targets
0.13Weak
dilated cardiomyopathyOpen Targets
0.12Weak
Acyl-CoA dehydrogenase very long-chain deficiencyUniProt
Pathogenic Variants507
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency|ACADVL-related disorder
β˜…β˜…β˜…β˜†2025β†’ Residue 385
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2025β†’ Residue 443
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|not provided
β˜…β˜…β˜…β˜†2025β†’ Residue 299
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|not provided|Gastric cancer
β˜…β˜…β˜…β˜†2025β†’ Residue 511
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency|Malignant tumor of urinary bladder
β˜…β˜…β˜…β˜†2025β†’ Residue 478
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)Pathogenic
Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2025β†’ Residue 438
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2025β†’ Residue 37
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)Pathogenic
Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2025β†’ Residue 267
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency|ACADVL-related disorder
β˜…β˜…β˜…β˜†2025β†’ Residue 602
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2025β†’ Residue 366
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2025β†’ Residue 463
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)Likely pathogenic
not specified|Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2025β†’ Residue 459
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|ACADVL-related disorder
β˜…β˜…β˜…β˜†2025β†’ Residue 251
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|not provided|ACADVL-related disorder|Inborn genetic diseases
β˜…β˜…β˜…β˜†2024β†’ Residue 278
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|not provided|See cases
β˜…β˜…β˜…β˜†2024β†’ Residue 260
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 333
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)Likely pathogenic
Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 249
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)Pathogenic
Very long chain acyl-CoA dehydrogenase deficiency|ACADVL-related disorder
β˜…β˜…β˜…β˜†2024β†’ Residue 319
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 180
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)Likely pathogenic
not provided|Very long chain acyl-CoA dehydrogenase deficiency
β˜…β˜…β˜…β˜†2024β†’ Residue 456
View on ClinVar β†—
Related Genes
HADHBProtein interaction100%ACOX3Protein interaction99%CPT2Protein interaction98%ECHS1Protein interaction98%ACAA1Protein interaction98%EHHADHProtein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
45%
Lung
30%
Ovary
26%
Bone Marrow
15%
Brain
6%
Gene Interaction Network
Click a node to explore
ACADVLHADHBACOX3CPT2ECHS1ACAA1EHHADH
PROTEIN STRUCTURE
Preparing viewer…
PDB7S7G Β· 1.34 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.73–1.08]
RankingsWhere ACADVL stands among ~20K protein-coding genes
  • #3,185of 20,598
    Most Researched143 Β· top quartile
  • #106of 5,498
    Most Pathogenic Variants507 Β· top 5%
  • #10,910of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedACADVL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
PMID: 36253820
Orphanet J Rare Dis Β· 2022
0.90
3
Pearson syndrome.
PMID: 29337599
Expert Rev Hematol Β· 2018
0.80
4
Accumulation of long-chain fatty acids in the tumor microenvironment drives dysfunction in intrapancreatic CD8+ T cells.
PMID: 32491160
J Exp Med Β· 2020
0.70
5
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
PMID: 33093005
Mol Genet Metab Β· 2020
0.60