PSAP Chromosome 10

Prosaposin
117 variants 117 Health Risk

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What This Gene Does
This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Receptor ligands
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000197746
Associated Conditions (13)
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
PSAP-related disorder
Inborn genetic diseases
Neuromuscular disease
Parkinson disease 24
autosomal dominant
susceptibility to
Melanoma
Hepatocellular carcinoma
Key Variants
RS111369573
Conflicting classifications of pathogenicity
Gaucher disease due to saposin C deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency
Health Risk
RS113284884
Conflicting classifications of pathogenicity
Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency
Health Risk
RS138010978
Conflicting classifications of pathogenicity
Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
Health Risk
RS138328594
Conflicting classifications of pathogenicity
Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
Health Risk
RS138880818
Conflicting classifications of pathogenicity
Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency
Health Risk
RS139178900
Conflicting classifications of pathogenicity
Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency
Health Risk
RS140066253
Conflicting classifications of pathogenicity
Gaucher disease due to saposin C deficiency, Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency
Health Risk
RS141133813
Conflicting classifications of pathogenicity
Gaucher disease due to saposin C deficiency, Combined PSAP deficiency, Krabbe disease due to saposin A deficiency
Health Risk
RS141199649
Conflicting classifications of pathogenicity
Gaucher disease due to saposin C deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency
Health Risk
RS141906397
Conflicting classifications of pathogenicity
Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Sphingolipid activator protein 1 deficiency
Health Risk
RS144942998
Conflicting classifications of pathogenicity
Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
Health Risk
RS147046509
Conflicting classifications of pathogenicity
Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency
Health Risk
All Variants (117)
RSID Category Clinical Significance Conditions
RS111369573 Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency
RS113284884 Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency
RS138010978 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
RS138328594 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
RS138880818 Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency
RS139178900 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency
RS140066253 Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency
RS141133813 Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Combined PSAP deficiency, Krabbe disease due to saposin A deficiency
RS141199649 Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Krabbe disease due to saposin A deficiency, Combined PSAP deficiency
RS141906397 Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Sphingolipid activator protein 1 deficiency
RS144942998 Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
RS147046509 Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency
RS149000433 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS150177878 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS185892516 Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Gaucher disease due to saposin C deficiency, Krabbe disease due to saposin A deficiency
RS188854022 Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency
RS199672678 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency
RS200319381 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Metachromatic leukodystrophy, PSAP-related disorder
RS200577646 Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Sphingolipid activator protein 1 deficiency, Metachromatic leukodystrophy
RS202125074 Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
RS2494516617 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494541474 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Neuromuscular disease, Sphingolipid activator protein 1 deficiency
RS370875535 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS374922455 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Inborn genetic diseases, Sphingolipid activator protein 1 deficiency
RS375720661 Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Combined PSAP deficiency, Krabbe disease due to saposin A deficiency
RS376628499 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency
RS377024801 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
RS377027316 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Metachromatic leukodystrophy, Combined PSAP deficiency
RS529719024 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency
RS535525554 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency
RS544300820 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency
RS573095617 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency
RS748761213 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency
RS749660716 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency, Krabbe disease due to saposin A deficiency
RS749663645 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency
RS754680319 Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Sphingolipid activator protein 1 deficiency, Inborn genetic diseases
RS770871198 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS774029071 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Inborn genetic diseases, Sphingolipid activator protein 1 deficiency
RS774088864 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Inborn genetic diseases, Sphingolipid activator protein 1 deficiency
RS774663731 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency, Krabbe disease due to saposin A deficiency
RS775086571 Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency
RS777227555 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency, Combined PSAP deficiency
RS780891597 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency
RS886047152 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency
RS886047153 Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency, Sphingolipid activator protein 1 deficiency
RS111610925 Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS112041816 Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS113365744 Health Risk Likely pathogenic Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency
RS121918110 Health Risk Likely pathogenic Gaucher disease due to saposin C deficiency, Metachromatic leukodystrophy, Gaucher disease due to saposin C deficiency
RS1409969130 Health Risk Likely pathogenic Parkinson disease 24, autosomal dominant, susceptibility to
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