rs758929346
This variant is located in the ACADS gene.
▶ClinVar annotation
About ACADS
This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]
View all ACADS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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