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ETFDH electron transfer flavoprotein dehydrogenase

Also known as: MADD; ETFQO


This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

Associated conditions

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

Chromosome: 4; NC_000004.12 (158672101..158708713)
Total number of exons:


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