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References OMIM Gene GeneReviews HGMD HGNC
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)