ACAD8 Gene Summary [Human]
This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | ACAD8 |
| Official Name | acyl-CoA dehydrogenase family member 8 [Source:HGNC Symbol;Acc:HGNC:87] |
| Ensembl ID | ENSG00000151498 |
| Bio databases IDs | |
| Aliases | acyl-CoA dehydrogenase family member 8, isobutyryl-CoA dehydrogenase |
| Synonyms | 2310016C19Rik, acyl-CoA dehydrogenase family member 8, acyl-CoA dehydrogenase family, member 8, acyl-Coenzyme A dehydrogenase family, member 8, ARC42, IBDH, RGD1564209 |
| 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 ACAD8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Acyl-CoA dehydrogenase, C-terminal domain
- acyl-CoA dehydrogenase
- Acyl-CoA dehydrogenase, middle domain
- enzyme
- protein binding
- 2-methylacyl-CoA dehydrogenase
- Acyl-CoA dehydrogenase, N-terminal domain
Pathways
Biological processes and signaling networks where the ACAD8 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
- hepatocellular carcinoma
- hereditary disorder
- liver cancer
- epithelial cancer
- isobutyryl-CoA dehydrogenase deficiency
- lung adenocarcinoma formation
- lung adenocarcinoma
- lung squamous cell carcinoma
- squamous cell lung cancer
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
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACAD8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid metabolic process
- valine catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
Molecular Function
What the gene product does at the molecular level
- acyl-CoA dehydrogenase activity
- flavin adenine dinucleotide binding