rs1024056446
This variant is located in the ACADM gene.
▶ClinVar annotation
not provided; Medium-chain acyl-coenzyme A dehydrogenase deficiency
View on ClinVar →About ACADM
This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all ACADM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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