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Description for Protein ETFDH

electron-transferring-flavoprotein dehydrogenase
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 3)
Summary:
Electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane accepts electrons from electron-transfer flavoprotein which is located in the mitochondrial matrix and reduces ubiquinone in the mitochondrial membrane. The protein is synthesized as a 67-kDa precursor which is targeted to mitochondria and processed in a single step to a 64-kDa mature form located in the mitochondrial membrane. Deficiency in electron-transferring-flavoprotein dehydrogenase have been demonstrated in some patients with type II glutaricacidemia. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.5.5.1
KEGG - Orthology:
K00311
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Electron transfer flavoprotein; ETF-ubiquinone oxidoreductase; Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial; ETF-QO; ETF dehydrogenase
Approved Symbol:
ETFDH
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 1
Human (de-) phosphorylation sites: 1; 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):

  • 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol(db)

    Associated Genetic Diseases:

  • Glutaric acidemia IIC(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01978 Entrez Gene ID: 2110 OMIM ID: 231675 Swissprot Accession: Q16134;