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ETFDH is 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.
Gene Name: | electron-transferring-flavoprotein dehydrogenase |
Synonyms: | ETFDH, ETF-ubiquinone oxidoreductase, ETFQO, ETF-QO, ETF dehydrogenase |
Target Sequences: | NM_004453 NP_004444.2 Q16134 |
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