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Description for Protein ETFA

electron-transfer-flavoprotein, alpha polypeptide
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 5/0)
(microparticles: 1; platelet: 4; secretome: 1)
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K03522
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
MADD; GA IIA; Glutaricacidemia IIA; Glutaricaciduria IIA; EMA; GA2; Alpha-ETF
Approved Symbol:
ETFA
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 4
Human (de-) phosphorylation sites: 4; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Glutaric aciduria IIA(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01979 Entrez Gene ID: 2108 OMIM ID: 608053 Swissprot Accession: P13804; B4DT43; Q53XN3;