rs372088389

This variant is located in the ACADM gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Medium-chain acyl-coenzyme A dehydrogenase deficiency; Inborn genetic diseases

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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