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ETFDH electron-transferring-flavoprotein dehydrogenase

Also known as: MADD; ETFQO

Summary

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

See all available tests in GTR for this gene

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

Location:
4q32-q35
Sequence:
Chromosome: 4; NC_000004.12 (158672101..158708713)
Total number of exons:
13

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