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GENATLAS PHENOTYPE

last update : 16/09/2006

Symbol	GLB1A
Location	3p22.3
Name	gangliosidosis, generalized GM1, type III, or adult type
Corresponding gene	GLB1
Main clinical features	angiokeratoma beginning in infancy, cerebellar dysfunction and diminishing vision, myoclonic fits, intellectual deterioration and coarsening of the face beginning at age adult
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

Gene product

Name	galactosidase, beta 1 (GLB1)

Remark(s)