rs141917423
This variant is located in the ETFB gene.
▶ClinVar annotation
not provided; Multiple acyl-CoA dehydrogenase deficiency; ETFB-related disorder
View on ClinVar →About ETFB
This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
View all ETFB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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