rs779385985

This is a variant in the ACAD8 gene that changes a tyrosine to an cysteine.

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ClinVar annotation

Pathogenic★☆☆☆

1 submitter2 publications

Deficiency of isobutyryl-CoA dehydrogenase; not specified

About ACAD8

This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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