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Reagents, Molecular Assay, Gene Anomaly, Mutation, ACAT1

Definition : Molecular assay reagents intended to identify mutations in the acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) (ACAT1) gene, located at chromosome 11q22.3-q23.1, which encodes for a mitochondrial enzyme that is specific for processing isoleucine and ketones. Mutations at this locus have been identified in patients with 3-ketothiolase deficiency (3ktd) also known as alpha-methylacetoacetic aciduria and with beta-ketothiolase deficiency.

Entry Terms : "Organic Beta-Ketothiolase Deficiency Gene Mutation Detection Reagents" , "Ketothiolase Deficiency Gene Mutation Detection Reagents" , "ACAT1 Gene Mutation Detection Reagents"

UMDC code : 24279

   

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