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GENATLAS PHENOTYPE
last update : 16/01/2008
Symbol SAPB
Location 10q22.1
Name saposin B deficiency
Corresponding gene PSAP
Main clinical features juvenile metachromatic leukodystrophy variant with normal ARSA activity
Genetic determination autosomal recessive
Function/system disorder metabolism/lysosomal
Type disease
Gene product
Name prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)
Remark(s)