ACADVL Gene Summary [Human]
The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ACADVL |
| Official Name | acyl-CoA dehydrogenase very long chain [Source:HGNC Symbol;Acc:HGNC:92] |
| Ensembl ID | ENSG00000072778 |
| Bio databases IDs | |
| Aliases | acyl-CoA dehydrogenase very long chain |
| Synonyms | ACAD6, acyl-CoA dehydrogenase very long chain, acyl-CoA dehydrogenase, very long chain, acyl-Coenzyme A dehydrogenase, very long chain, LCACD, VERY long-CHAIN FATTY ACYL-COA DEHYDROGENASE, VLACD, VLCAD |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ACADVL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- flavin adenine dinucleotide binding
- acyl-CoA dehydrogenase
- Acyl-CoA dehydrogenase, C-terminal domain
- Acyl-CoA dehydrogenase, middle domain
- acyl-CoA binding
- enzyme
- protein binding
- identical protein binding
- very-long-chain acyl-CoA dehydrogenase
- long-chain-acyl-CoA dehydrogenase
- Acyl-CoA dehydrogenase, N-terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- breast cancer
- epithelial cancer
- non-insulin-dependent diabetes mellitus
- liver cancer
- very long chain acyl-CoA dehydrogenase deficiency
- hereditary disorder
- androgenic alopecia
- weight gain
- cardiomyopathy
role in cell
- adipogenesis in
- accumulation in
- abnormal morphology
- respiration in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Mitochondria
- mitochondrial membrane
- mitochondrial matrix
- mitochondrial nucleoids
- mitochondrial inner membrane
- nucleoplasm
- nucleoli
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACADVL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cell differentiation
- negative regulation of fatty acid biosynthetic process
- response to cold
- fatty acid beta-oxidation using acyl-CoA dehydrogenase
- energy derivation by oxidation of organic compounds
- negative regulation of fatty acid oxidation
- temperature homeostasis
- regulation of cholesterol metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- mitochondrial matrix
- mitochondrion
- nucleolus
- mitochondrial inner membrane
- mitochondrial nucleoid
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- acyl-CoA dehydrogenase activity
- identical protein binding
- protein binding
- flavin adenine dinucleotide binding
- fatty-acyl-CoA binding
- very-long-chain-acyl-CoA dehydrogenase activity
- long-chain-acyl-CoA dehydrogenase activity