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GENATLAS PHENOTYPE
last update : 3/07/2006
Symbol GBA1
Location 1q22
Name Gaucher disease, types I
Corresponding gene GBA
Main clinical features corneal opacities and severe neonatal Gaucher disease type II with hydrops fetalis and/or ichtyosis, arthrogryposis, neuronal apoptosis and early death, macrophage enzyme replacement therapy is effective in the non neurological type I
Genetic determination autosomal recessive
Function/system disorder metabolism/lysosomal
Type disease
Gene product
Name glucosidase, beta, acid (GBA)
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
various types     four mutations N3705,C84-85 insG,IVS2 +1G to A, L444P account for more than 95p100 of cases in Askenazi Jews and about 50p100 of non-jewish patients
Remark(s)