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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)