ACADVL Gene - Very Long-Chain Acyl-CoA Dehydrogenase
Essential enzyme in mitochondrial fatty acid β-oxidation; mutations cause VLCAD deficiency
Gene Information Card
| Symbol | ACADVL |
|---|---|
| Full Name | Acyl-CoA Dehydrogenase Very Long Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 37 ncbi.nlm.nih.gov/gene/37 |
| Ensembl ID | ENSG00000072778 |
| UniProt ID | P49748 |
| OMIM ID | 609575 |
| HGNC ID | 92 |
| Aliases | VLCAD, ACAD6, LCACD |
Description
The ACADVL gene encodes very long-chain acyl-CoA dehydrogenase (VLCAD), a mitochondrial enzyme that catalyzes the first step of mitochondrial fatty acid β-oxidation for long-chain fatty acids (14–20 carbons). VLCAD is a homodimer localized to the inner mitochondrial membrane. Mutations in ACADVL cause very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), an autosomal recessive disorder of fatty acid oxidation presenting with hypoketotic hypoglycemia, cardiomyopathy, and rhabdomyolysis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) | Loss-of-function mutations impair β-oxidation of long-chain fatty acids, leading to energy deficiency and toxic metabolite accumulation | ClinVar, OMIM |
| Sudden infant death syndrome (SIDS) | Severe neonatal VLCADD can present as sudden death; postmortem biochemical and genetic testing identifies ACADVL mutations | NCBI, ClinVar |
| Cardiomyopathy, hypertrophic | Accumulation of long-chain acylcarnitines in cardiac muscle due to defective oxidation causes hypertrophic cardiomyopathy | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Heart | 15.2 | High |
| Skeletal muscle | 18.7 | High |
| Kidney | 8.3 | Medium |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocyte cell line |
| K-562 | 6.5 | Lymphoblast cell line |
| SH-SY5Y | 3.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.848T>C (p.Val283Ala) | Missense | Common in European populations | Reduced enzyme activity; mild phenotype |
| c.1040C>T (p.Thr347Met) | Missense | Rare | Severe VLCADD; complete loss of function |
| c.1322G>A (p.Arg441Gln) | Missense | Found in compound heterozygotes | Partial activity; late-onset myopathy |
| c.1844_1845delCT (p.Pro615Argfs*7) | Frameshift | Rare | Null allele; severe neonatal form |
Mutation functional classification
Loss of Function (LOF)
Most ACADVL mutations are loss-of-function, reducing or abolishing VLCAD enzyme activity, leading to impaired fatty acid oxidation and VLCADD.
Gain of Function (GOF)
No gain-of-function mutations reported for ACADVL.
Dominant Negative (DN)
No dominant-negative mutations reported; VLCADD is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003995 - acyl-CoA dehydrogenase activity | • GO:0005739 - mitochondrion |
| • GO:0016627 - oxidoreductase activity | • acting on the CH-CH group of donors |
| • GO:0033539 - fatty acid beta-oxidation using acyl-CoA dehydrogenase | • GO:0050660 - flavin adenine dinucleotide binding |
Pathways
• Mitochondrial fatty acid β-oxidation (Reactome: R-HSA-77289)
• Fatty acid metabolism (KEGG: hsa00071)
• PPAR signaling pathway (KEGG: hsa03320)
Protein Summary
VLCAD (UniProt P49748) is a 655-amino acid homodimeric mitochondrial enzyme that catalyzes the α,β-dehydrogenation of very long-chain acyl-CoAs (C14–C20). It contains a flavin adenine dinucleotide (FAD) cofactor and is anchored to the inner mitochondrial membrane. Defects cause VLCAD deficiency, a disorder of fatty acid oxidation with variable severity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACADVL Knockout HEK293 Cell Line | EDJ-KQ3277 | Human | 37 | Details Get a Quote |
| ACADVL Knockout A-549 Cell Line | EDJ-KQ24828 | Human | 37 | Details Get a Quote |
| ACADVL Knockout HCT 116 Cell Line | EDJ-KQ24829 | Human | 37 | Details Get a Quote |
| ACADVL Knockout HeLa Cell Line | EDJ-KQ24830 | Human | 37 | Details Get a Quote |
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