Gene Symbol | ETFDH |
Entrez Gene ID | 2110 |
Full Name | electron transfer flavoprotein dehydrogenase |
Synonyms | ETFQO,MADD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Glutaric acidemia IIC, 231680 (3) |