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GENATLAS PHENOTYPE |
last update : 6/07/2006 |
Symbol | GSD8B |
Location | 16q12.1 |
Name | glycogen storage disease, type VIIIb |
Other name(s) | glycogenesis of liver and muscle |
Corresponding gene | PHKB |
Other symbol(s) | PHKB |
Main clinical features | hepatomegaly and marked accumulation of glycogen in both liver and muscle, without clinical symptoms |
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/carbohydrates |
Type | disease |
Gene product |
Name | phosphorylase kinase,beta subunit (PHKB) |