rs121909301

This is a variant in the OXCT1 gene that changes a glycine to an glutamate.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

Succinyl-CoA acetoacetate transferase deficiency (SCOTD)

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About OXCT1

This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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