ACADL: Acyl-CoA Dehydrogenase, Long Chain
Key enzyme in mitochondrial fatty acid beta-oxidation; associated with ACADL deficiency and metabolic disorders.
Gene Information Card
| Symbol | ACADL |
|---|---|
| Full Name | Acyl-CoA Dehydrogenase, Long Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 2q34 |
| NCBI Gene ID | 33 ncbi.nlm.nih.gov/gene/33 |
| Ensembl ID | ENSG00000115361 |
| UniProt ID | P28330 |
| OMIM ID | 609576 |
| HGNC ID | 88 |
| Aliases | LCAD, ACAD4 |
Description
The ACADL gene encodes long-chain acyl-CoA dehydrogenase (LCAD), a mitochondrial enzyme that catalyzes the initial step of long-chain fatty acid beta-oxidation. It specifically dehydrogenates acyl-CoA substrates with chain lengths of 12-18 carbons. Mutations in ACADL cause ACADL deficiency, a rare autosomal recessive disorder of fatty acid oxidation presenting with hypoglycemia, hepatomegaly, and cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| ACADL deficiency | Loss of enzyme function reduces long-chain fatty acid oxidation, leading to energy deficit and toxic metabolite accumulation. | ClinVar, OMIM |
| Sudden infant death syndrome (SIDS) | Potential association; impaired fatty acid oxidation may contribute to metabolic crisis. | NCBI Gene, OMIM |
| Non-alcoholic fatty liver disease (NAFLD) | Reduced ACADL expression linked to hepatic lipid accumulation. | PubMed, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Heart | 9.8 | Medium |
| Skeletal muscle | 7.2 | Medium |
| Kidney | 6.1 | Medium |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocyte model |
| HEK293 | 4.5 | Embryonic kidney |
| SH-SY5Y | 1.8 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.848T>C (p.Leu283Pro) | Missense | Rare | Loss of enzyme activity; associated with ACADL deficiency |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Reduced protein stability and catalytic function |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of translation |
Mutation functional classification
Loss of Function (LOF)
Most ACADL mutations cause loss of enzyme activity, impairing long-chain fatty acid oxidation.
Gain of Function (GOF)
Not reported for ACADL.
Dominant Negative (DN)
Not reported for ACADL.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003995 - acyl-CoA dehydrogenase activity | • GO:0005739 - mitochondrion |
| • GO:0006635 - fatty acid beta-oxidation | • GO:0016627 - oxidoreductase activity |
| • acting on CH-CH group of donors | • GO:0055114 - oxidation-reduction process |
Pathways
• Fatty acid degradation (KEGG: hsa00071)
• Mitochondrial beta-oxidation of long-chain fatty acids (Reactome: R-HSA-77289)
• Metabolism of lipids (Reactome: R-HSA-556833)
Protein Summary
Long-chain acyl-CoA dehydrogenase (LCAD) is a homotetrameric mitochondrial flavoprotein that catalyzes the alpha,beta-dehydrogenation of long-chain acyl-CoA esters. It contains FAD as a cofactor and is essential for energy production from fatty acids. Defects in this protein lead to ACADL deficiency, characterized by hypoketotic hypoglycemia, hepatomegaly, and cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACADL Knockout HEK293 Cell Line | EDJ-KQ3148 | Human | 33 | Details Get a Quote |
| ACADL Knockout HeLa Cell Line | EDJ-KQ24548 | Human | 33 | Details Get a Quote |
| ACADL Knockout A-549 Cell Line | EDJ-KQ61017 | Human | 33 | Details Get a Quote |
| ACADL Knockout HCT 116 Cell Line | EDJ-KQ69491 | Human | 33 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
