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GENATLAS PHENOTYPE
last update : 15/12/2006
Symbol OXCT
Location 5p13
Name succinyl-CoA:3 ketoacid CoA-transferase deficiency
Other name(s)
  • ketoacidosis due to scot deficiency
  • Corresponding gene OXCT1
    related resource MITOP database
    Other symbol(s) SCOT
    Main clinical features severe intermittent ketoacidosis, onset in early infancy, with no measurable succinyl-CoA:3-ketoacid CoA-transferase activity, myoclonic convulsions, mental retardation, microcephaly
    Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name succinyl CoA:3-oxoacid CoA transferase (OXCT)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein null mutation causing typical OXCT1 deficiency
    Remark(s) R268H mutation was expected to break a conserved salt bridge between R268 and D52, which would be expected to lead to decreased stability of the protein (more unstable than the wild-type in a temperature-sensitive manner)