ACADL Gene Summary [Human]
The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | ACADL |
| Official Name | acyl-CoA dehydrogenase long chain [Source:HGNC Symbol;Acc:HGNC:88] |
| Ensembl ID | ENSG00000115361 |
| Bio databases IDs | |
| Aliases | acyl-CoA dehydrogenase long chain, long-chain acyl-CoA dehydrogenase |
| Synonyms | ACAD4, ACOADA, acyl-CoA dehydrogenase long chain, acyl-CoA dehydrogenase, long chain, acyl-Coenzyme A dehydrogenase, long-chain, LCAD, Long chain acyl-coa dehydrogenase |
| 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 ACADL 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
- protein homodimerization
- enzyme
- protein binding
- identical protein binding
- long-chain-acyl-CoA dehydrogenase
- Acyl-CoA dehydrogenase, N-terminal domain
Pathways
Biological processes and signaling networks where the ACADL gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatic steatosis
- atherosclerosis
- hepatocellular carcinoma
- epithelial cancer
- liver cancer
- lung adenocarcinoma
- lung adenocarcinoma formation
- cardiac fibrosis
- macrovesicular hepatic steatosis
- concentric hypertrophic cardiomyopathy
role in cell
- adipogenesis 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
- low-density microsomal fraction
- cellular membrane
- Mitochondria
- mitochondrial membrane
- mitochondrial matrix
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACADL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of fatty acid biosynthetic process
- long-chain fatty acid catabolic process
- fatty acid beta-oxidation using acyl-CoA dehydrogenase
- negative regulation of fatty acid oxidation
- carnitine metabolic process, CoA-linked
- temperature homeostasis
- cellular lipid catabolic process
- carnitine catabolic process
- regulation of cholesterol metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- mitochondrial matrix
- cytoplasm
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- flavin adenine dinucleotide binding
- fatty-acyl-CoA binding
- palmitoyl-CoA oxidase activity
- long-chain-acyl-CoA dehydrogenase activity