rs2141516230
This variant is located in the ETFA gene.
▶ClinVar annotation
Multiple acyl-CoA dehydrogenase deficiency
View on ClinVar →About ETFA
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, Jul 2008]
View all ETFA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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