ETFA

Also known as EMA, GA2, MADD, electron transfer flavoprotein alpha subunit, electron transfer flavoprotein subunit alpha

The human ETFA gene encodes the Electron-transfer-flavoprotein, alpha subunit, also known as ETF-α. Together with Electron-transfer-flavoprotein, beta subunit, encoded by the 'ETFB' gene, it forms the heterodimeric electron transfer flavoprotein (ETF). The native ETF protein contains one molecule of FAD and one molecule of AMP, respectively.

Gene data

ETFA

Name: electron transfer flavoprotein subunit alpha
Type: protein-coding
Position: 76,188,555–76,311,730 (−)
Aliases: EMA, GA2, MADD
Ensembl: ENSG00000140374
RefSeq RNA: NM_000126.4, NM_001127716.2, XR_007064434.1, XR_008488929.1
RefSeq protein: NP_000117.1, NP_001121188.1

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].

Gene Ontology

Biological process

amino acid catabolic process

Article

9 sections

Contents

Evolutionary relationships
Gene, expression, and subcellular localization
Posttranslational modifications and regulation
Structure and interaction with redox partners
Molecular Function
Genetic deficiencies and molecular pathogenesis
Notes
References
Further reading

First reports on the ETF protein were based on ETF isolated from porcine liver. Porcine and human ETF transfer electrons from mitochondrial matrix flavoenzymes to Electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO) encoded by the ETFDH gene. ETF-QO subsequently relays the electrons via ubiquinone to complex III in the respiratory chain. The flavoenzymes that transfer electrons to ETF are involved in fatty acid beta oxidation, amino acid catabolism, choline metabolism, and special metabolic pathways. Defects in either of the ETF subunits or ETFDH cause multiple acyl CoA dehydrogenase deficiency (OMIM # 231680), earlier called glutaric acidemia type II. MADD is characterized by excretion of a series of substrates of the upstream flavoenzymes, e.g. glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.