rs1422128590
This variant is located in the OXCT1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationSuccinyl-CoA acetoacetate transferase deficiency
View on ClinVar →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]
View all OXCT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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