Title : Non-neuronopathic Gaucher disease due to saposin C deficiency.

Pub. Date : 2007 Dec

PMID : 17919309






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The prosaposin PSAP gene codes for a single protein which undergoes post-translational cleavage to yield four proteins named saposins A, B, C and D. Saposin (SAP-) C is required for glucosylceramide degradation, and its deficiency results in a variant form of Gaucher disease. Glucosylceramides prosaposin Homo sapiens