| Entrez gene ID | | 2108 |
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| Official gene symbol | | ETFA |
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| Full name | | electron-transfer-flavoprotein, alpha polypeptide |
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| Aliases | | ,EMA,GA2,MADD, |
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| Gene 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] |
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| Location | | Chromosome: 15 Locus: 15q23-q25 |
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| Gene position | | 76603810 - 76508628 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 95183 bp |
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| Gene sequence |
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| OMIM ID | | 608053 |
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