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GENATLAS PHENOTYPE

last update : 07-07-2017

Symbol	SAPC
Location	10q22.1
Name	Gaucher disease, variant C
Corresponding gene	PSAP
Main clinical features	usually metachromatic leukodystrophy but also non-neuronopathic form with osteopenia, hepatosplenomegaly, bone remodeling, cachexia, anemia and thrombocytopenia
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

Gene product

Name	co-beta-glucosidase, saposin C (SAPC)

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