ETFA Gene Summary [Human]
ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ETFA |
| Official Name | electron transfer flavoprotein subunit alpha [Source:HGNC Symbol;Acc:HGNC:3481] |
| Ensembl ID | ENSG00000140374 |
| Bio databases IDs | |
| Aliases | electron transfer flavoprotein subunit alpha, glutaric aciduria II |
| Synonyms | 2010200I21Rik, D9Ertd394e, electron transfer flavoprotein subunit alpha, electron transfer flavoprotein subunit α, Electron transferring flavoprotein, electron transferring flavoprotein, alpha polypeptide, electron transferring flavoprotein, α polypeptide, EMA, ETF, GA2, 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 ETFA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- electron carrier
- flavin adenine dinucleotide binding
- oxidoreductase
- Electron transfer flavoprotein domain
- protein binding
- Electron transfer flavoprotein FAD-binding domain
- Adenine nucleotide alpha hydrolase (AANH) superfamily
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glutaric aciduria type 2
- glutaric aciduria type 3
- diverticular disease
- glutaric acidemia type 2A
- hereditary disorder
- silicosis
- breast carcinoma
- central nervous system cancer
regulates
- fatty acid
- amino acids
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
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ETFA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular amino acid catabolic process
- fatty acid beta-oxidation using acyl-CoA dehydrogenase
- respiratory electron transport chain
Cellular Component
Where in the cell the gene product is active
- electron transfer flavoprotein complex
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein binding
- flavin adenine dinucleotide binding
- oxidoreductase activity
- electron carrier activity