rs779957523

This variant is located in the ACAD9 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

not provided; Inborn genetic diseases

About ACAD9

This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

View all ACAD9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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