ETFDH Gene Summary [Human]
This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
Details
| Type | Processed Transcript |
| Official Symbol | ETFDH |
| Official Name | electron transfer flavoprotein dehydrogenase [Source:HGNC Symbol;Acc:HGNC:3483] |
| Ensembl ID | ENSG00000171503 |
| Bio databases IDs | |
| Aliases | electron transfer flavoprotein dehydrogenase |
| Synonyms | 0610010I20Rik, electron transfer flavoprotein dehydrogenase, Electron-Transfer Flavoprotein-Ubiquinone Oxidoreductase, electron transferring flavoprotein, dehydrogenase, ETFQO, MADD |
| 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 ETFDH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 4Fe-4S dicluster domain
- electron carrier
- flavin adenine dinucleotide binding
- quinone binding
- binding protein
- oxidoreductase
- ubiquinone binding
- electron-transferring-flavoprotein dehydrogenase
- enzyme
- protein binding
- Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S
- geranylgeranyl reductase family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- epithelial cancer
- glutaric aciduria type 2
- glutaric acidemia type 2C
- hereditary disorder
- hypertrophic cardiomyopathy
- late-onset glutaric acidemia type 2C
- non-insulin-dependent diabetes mellitus
- hepatitis B virus-related hepatocellular carcinoma
- bipolar disorder
role in cell
- growth
- tubulation
- tubulation in
- fragmentation in
- fragmentation
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
- cytosol
- mitochondrial membrane
- mitochondrial matrix
- mitochondrial inner membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ETFDH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to oxidative stress
- fatty acid beta-oxidation using acyl-CoA dehydrogenase
- respiratory electron transport chain
- electron transport chain
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- mitochondrial matrix
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- quinone binding
- oxidoreductase activity
- flavin adenine dinucleotide binding
- metal ion binding
- electron carrier activity
- electron-transferring-flavoprotein dehydrogenase activity
- 4 iron, 4 sulfur cluster binding
- ubiquinone binding