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GENATLAS PHENOTYPE
last update : 24/08/2007
Symbol GGT1
Location 22q11.23
Name glutathionuria
Corresponding gene GGT1
Main clinical features paucisymptomatic patients, with glutathionemia and marked glutathionuria
Genetic determination autosomal recessive
Function/system disorder metabolism/aminoacids
metabolism/organic acid
Type disease
Gene product
Name gamma-glutamyltransferase (GGT6)
Remark(s)