ACADM Gene Summary [Human]
This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | ACADM |
| Official Name | acyl-CoA dehydrogenase medium chain [Source:HGNC Symbol;Acc:HGNC:89] |
| Ensembl ID | ENSG00000117054 |
| Bio databases IDs | |
| Aliases | acyl-CoA dehydrogenase medium chain, medium-chain acyl-CoA dehydrogenase |
| Synonyms | ACAD1, ACADM1, Acetyl-Coenzyme A Dehydrogenase, Acetyl coenzyme a dehydrogenase, medium chain, acyl-CoA dehydrogenase medium chain, Acyl-CoA dehydrogenase, medium chain, acyl-Coenzyme A dehydrogenase, medium chain, MCAD, MCADH, MEDIUM-CHAIN FATTY 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 ACADM 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
- isomerase
- enzyme
- identical protein binding
- oxidoreductase acting on the CH-CH group of donors with flavin as acceptor
- 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
- systemic sclerosis
- dyslipidemia
- epithelial cancer
- medium-chain acyl-coenzyme a dehydrogenase deficiency
- cholangiocarcinoma
- cholangiocarcinoma cancer
- hereditary disorder
- liver cancer
- hepatocellular carcinoma
- Huntington disease
regulates
- D-glucose
- fatty acid
- glycogen
- carnitine
- ACADM
- octanoylcarnitine
- medium chain fatty acid
- lipid
- organic acid
role in cell
- production in
- differentiation
- abnormal morphology
- gluconeogenesis 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
- axons
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACADM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- post-embryonic development
- response to starvation
- regulation of gluconeogenesis
- carnitine biosynthetic process
- response to cold
- glycogen biosynthetic process
- fatty acid beta-oxidation
- fatty acid beta-oxidation using acyl-CoA dehydrogenase
- medium-chain fatty acid catabolic process
- carnitine metabolic process, CoA-linked
- liver development
- medium-chain fatty acid metabolic process
- cardiac muscle cell differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrial membrane
- mitochondrial matrix
- cytoplasm
- mitochondrion
- axon
Molecular Function
What the gene product does at the molecular level
- acyl-CoA dehydrogenase activity
- identical protein binding
- medium-chain-acyl-CoA dehydrogenase activity
- flavin adenine dinucleotide binding