LSDDB

Gaucher disease - Atypical

This is an atypical form of Gaucher’s disease caused due to the deficiency of Saposin C (Christomanou, Aignesberger and Linke, 1986). The PSAP gene encoding the protein is located at 10q21.1(Shaimardanova et al., 2020). From prediction results of 2 mutations, none of them were predicted to be neither neutral nor disease by all programs. When compared between SNPs&GO and Meta-SNP, both the mutants were predicted as disease.

Reference :
Christomanou, H., Aignesberger, A. and Linke, R.P. (1986) ‘Immunochemical Characterization of Two Activator Proteins Stimulating Enzymic Sphingomyelin Degradation in vitro Absence of One of them in a Human Gaucher Disease Variant’, 367(2), pp. 879–890. doi:10.1515/bchm3.1986.367.2.879.
Shaimardanova, A.A. et al. (2020) ‘Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches’, Frontiers in Medicine, 7. doi:10.3389/fmed.2020.576221.