Prosaposin (PSAP) gene mutations, affecting saposin B (Sap-B) domain, cause a rare metachromatic leukodystrophy (MLD) variant in which arylsulfatase A (ARSA) activity is normal. The human prosaposin gene (PSAP) was previously localized to 10q21-->q22 by isotopic in situ hybridization using a human prosaposin cDNA as a probe. Using fluorescence in situ hybridization with a mouse genomic prosaposin fragment as probe, confirms the localization of PSAP and precisely maps it to band 10q22.1. PSAP/Prosaposin Protein, Human, Recombinant (His) is expressed in HEK293 mammalian cells with His tag. The predicted molecular weight is 57.9 kDa and the accession number is A0A024QZQ2.
TMPY-04510
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