ETFA

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]

Description

Electron transfer flavoprotein subunit alpha

Tissue specificity

Tissue enhanced (liver, tongue)

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

15 (76215353 - 76311472)

Ensembl ID

ENSG00000140374  (ver. 103.38)

Orthologs

Mouse Etfa: ENSMUSG00000032314

UniProt

P13804

neXtProt

NX_P13804

Human splice variants
Mouse splice variants

Protein structure