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ETFA electron transfer flavoprotein alpha subunit

Also known as: EMA; GA2; MADD

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, Jul 2008]

Associated conditions

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DescriptionTests
Glutaric aciduria, type 2
MedGen: C0268596OMIM: 231680GeneReviews: Not available
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Genomic context

Location:
15q24.2-q24.3
Sequence:
Chromosome: 15; NC_000015.10 (76216228..76311469, complement)
Total number of exons:
13

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