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GENATLAS PHENOTYPE
last update : 24/12/2008
Symbol CAT
Location 11p13
Name acatalasia
Corresponding gene CAT
Main clinical features
  • progressive oral gangrene, hydrogen peroxide applied to the ulcerated areas did not froth in the usual manner
  • increased frequency of diabetes
    • Genetic determination autosomal dominant
    Function/system disorder metabolism/peroxisomal
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion-deletion   truncated protein a GA insertion resulting in a truncated protein, a G->A substitution leading to exon skipping
    Remark(s)
    Genotype/Phenotype correlations catalase (CAT), a GA insertion leading to a truncated protein in the Hungarian type