rs781061205
This variant is located in the ACADVL gene.
▶ClinVar annotation
Very long chain acyl-CoA dehydrogenase deficiency
View on ClinVar →About ACADVL
The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
View all ACADVL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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