IVD Gene Summary [Human]
Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
Details
| Type | Protein Coding |
| Official Symbol | IVD |
| Official Name | isovaleryl-CoA dehydrogenase [Source:HGNC Symbol;Acc:HGNC:6186] |
| Ensembl ID | ENSG00000128928 |
| Bio databases IDs | |
| Aliases | isovaleryl-CoA dehydrogenase |
| Synonyms | 1300016K07Rik, 6720455E18Rik, ACAD2, Isovaleryl-Coa Dehydrogenase, isovaleryl coenzyme A dehydrogenase, Ivd2, IVDH |
| 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 IVD 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
- isovaleryl-CoA dehydrogenase
- enzyme
- protein binding
- 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
- isovaleryl-coa dehydrogenase deficiency
- colorectal cancer
- hepatocellular carcinoma
- liver cancer
- epithelial cancer
- interstitial lung disease
- idiopathic pulmonary fibrosis
- pervasive developmental disorder
- hereditary disorder
- Parkinson disease
regulates
- branched chain amino acids
- leucine
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 membrane
- mitochondrial matrix
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IVD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fatty acid beta-oxidation using acyl-CoA dehydrogenase
- branched chain family amino acid catabolic process
- leucine catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- isovaleryl-CoA dehydrogenase activity
- identical protein binding
- protein binding
- flavin adenine dinucleotide binding
- butyryl-CoA dehydrogenase activity