Electron Transfer Flavoprotein Dehydrogenase

Alternative Names

  • ETFDH
  • Electron Transfer Flavoprotein:Ubiquinone Oxidoreductase
  • ETFQO
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OMIM Number

231675

NCBI Gene ID

2110

Uniprot ID

Q16134

Length

37,523 bases

No. of Exons

14

No. of isoforms

2

Protein Name

Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial

Molecular Mass

68495 Da

Amino Acid Count

617

Genomic Location

chr4:158,672,101-158,709,623

Gene Map Locus
4q32.1

Description

The ETFDH gene encodes an enzyme called electron transfer flavoprotein dehydrogenase. This enzyme is active in the inner mitochondrial membrane, where it accepts electrons from electron-transfer flavoprotein located in the mitochondrial matrix and reduces ubiquinone in the mitochondrial membrane. Defects in this enzyme are the cause of glutaric aciduria 2C (GA2C), an autosomal recessive disorder characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004453.3:c.1414G>AUnited Arab EmiratesNC_000004.12:g.158706317G>APathogenic, Uncertain SignificanceLikely PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyNG_007078.2:g.38976G>A; NM_004453.3:c.1414G>A; NP_004444.2:p.Gly472Arg746598421459963
NM_004453.4:c.807A>CUnited Arab EmiratesNC_000004.12:g.158695619A>CUncertain SignificanceLikely Pathogenic, PathogenicMultiple Acyl-CoA Dehydrogenation DeficiencyNG_007078.2:g.28278A>C; NM_004453.4:c.807A>C; NP_004444.2:p.Gln269His1265381182565800
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