ETFA - electron transfer flavoprotein subunit alpha Gene
Also Known as EMA; GA2; MADD
Species: Homo sapiens
About ETFA
This gene has 38 transcripts (splice variants), 201 orthologues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 95.3), heart (RPKM 73.2) and 25 other tissues.
Summary
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]
ETFA Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000126.4 | NP_000117.1 | electron transfer flavoprotein subunit alpha, mitochondrial isoform a |
| NM_001127716.2 | NP_001121188.1 | electron transfer flavoprotein subunit alpha, mitochondrial isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables electron transfer activity |
IDA
IDA: Inferred from direct assay
|
10423253 | GOA |
| enables flavin adenine dinucleotide binding |
IDA
IDA: Inferred from direct assay
|
9334218 | GOA |
| enables oxidoreductase activity |
IDA
IDA: Inferred from direct assay
|
9334218 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
24606901 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in amino acid catabolic process |
IDA
IDA: Inferred from direct assay
|
25416781 | GOA |
| involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase |
IDA
IDA: Inferred from direct assay
|
25416781 | GOA |
| involved in respiratory electron transport chain |
IDA
IDA: Inferred from direct assay
|
25416781 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of electron transfer flavoprotein complex |
IPI
IPI: Inferred from physical interaction
|
8962055 | GOA |
ETFA Protein Structure
ETF: Electron transfer flavoprotein domain (22 - 174)
ETF_alpha: Electron transfer flavoprotein FAD-binding domain (210 - 294)
- 0
- 100
- 200
- 300
- 333 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
electron transfer flavoprotein subunit alpha, mitochondrial |
|
ETFA Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ETFA | P13804 | ETFB | Homo sapiens | P38117 | 33961781 | |
|
Intra
|
ETFA | P13804 | ETFB | Homo sapiens | P38117 | 27499296 |
ETFA Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P84092 | ETFA Antibody (YA3789) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84092A | ETFA Antibody (YA3789)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type |
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type |
|
|
| Riboflavin Deficiency |
|
|
| Glutaric Aciduria Iii |
|
|
| Gm2 Gangliosidosis |
|
|
| Sandhoff Disease |
|
|
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
|
| Glutamate Formiminotransferase Deficiency |
|
|
| Tay-Sachs Disease |
|
|
| Gangliosidosis |
|
|
| Gm2-Gangliosidosis, Ab Variant |
|
|
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
|
| Carnitine Deficiency, Systemic Primary |
|
|
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
|
| Fazio-Londe Disease |
|
|
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
|
| Glutaric Acidemia I |
|
|
| Chronic Inducible Urticaria |
|
|
| Isovaleric Acidemia |
|
|
| Diamond-Blackfan Anemia 5 |
|
|
| Cholinergic Urticaria |
|
|
| Angiokeratoma |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
|
| Encephalopathy, Ethylmalonic |
|
|
| Skin Hemangioma |
|
|
| Sphingolipidosis |
|
|
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
|
| Gm1 Gangliosidosis |
|
|
| Progressive Bulbar Palsy |
|
|
| 2-Hydroxyglutaric Aciduria |
|
|
| Nephrotic Syndrome, Type 14 |
|
|
| D-2-Hydroxyglutaric Aciduria 1 |
|
|
| Mitochondrial Trifunctional Protein Deficiency |
|
|
| Myopathy |
|
|
| Niemann-Pick Disease, Type C1 |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | ETFA | MGD | MGI:106092 |
| Bos taurus | ETFA | VGNC | VGNC:28618 |
| Canis familiaris | ETFA | VGNC | VGNC:40487 |
| Macaca mulatta | ETFA | VGNC | VGNC:72436 |
| Rattus norvegicus | ETFA | RGD | RGD:628747 |
| Felis catus | ETFA | VGNC | VGNC:61975 |
| Others | ETFA | NCBI |