Variant "PSAP:variant"
Search result: 1 record
Variant information
Gene:
Variant:
PSAP:variant 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
Disorder:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered Sap C deficiency(1)  
Detail:
  • Target disease:
    Gaucher's Disease (DOID_1926)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered Sap C deficiency 
    Evidence:
    Gene activity study 
    Effect:
    The PSAP gene encoding saposin C is a prime candidate modifier for Gaucher disease.
    Reference:
    Title:
    The role of saposin C in Gaucher disease.
    Species studied:
    Human
    Abstract:
    Saposin C is one of four homologous proteins derived from sequential cleavage of the saposin precursor protein, prosaposin. It is an essential activator for glucocerebrosidase, the enzyme deficient in Gaucher disease. Gaucher disease is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GBA gene that exhibits vast phenotypic heterogeneity, despite its designation as a simple Mendelian disorder. The observed phenotypic variability has led to a search for disease modifiers that can alter the Gaucher phenotype. The PSAP gene encoding saposin C is a prime candidate modifier for Gaucher disease. In humans, saposin C deficiency due to mutations in PSAP results in a Gaucher-like phenotype, despite normal in vitro glucocerebrosidase activity. Saposin C deficiency has also been shown to modify phenotype in one mouse model of Gaucher disease. The role of saposin C as an activator required for normal glucocerebrosidase function, and the consequences of saposin C deficiency are described, and are being explored as potential modifying factors in patients with Gaucher disease.