PSAP Chromosome 10
Prosaposin
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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 |
|---|---|---|---|
| RS2494526165 | Health Risk | Pathogenic | Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency |
| RS2494535401 | Health Risk | Pathogenic | Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency |
| RS2494541533 | Health Risk | Pathogenic | Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency, Combined PSAP deficiency |
| RS2494541782 | Health Risk | Pathogenic | Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency |
| RS761831797 | Health Risk | Pathogenic | Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency |
| RS765607332 | Health Risk | Pathogenic | Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency |
| RS879116657 | Health Risk | Pathogenic | Combined PSAP deficiency, Combined PSAP deficiency |
| RS121918103 | Health Risk | Pathogenic/Likely pathogenic | Sphingolipid activator protein 1 deficiency, Inborn genetic diseases, Krabbe disease due to saposin A deficiency |
| RS121918104 | Health Risk | Pathogenic/Likely pathogenic | Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency, Parkinson disease 24 |
| RS121918107 | Health Risk | Pathogenic/Likely pathogenic | Sphingolipid activator protein 1 deficiency, PSAP-related disorder, Metachromatic leukodystrophy |
| RS1431844269 | Health Risk | Pathogenic/Likely pathogenic | Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency, Metachromatic leukodystrophy |
| RS1589448124 | Health Risk | Pathogenic/Likely pathogenic | Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency, Gaucher disease due to saposin C deficiency |
| RS765744298 | Health Risk | Pathogenic/Likely pathogenic | Metachromatic leukodystrophy, Gaucher disease due to saposin C deficiency, Sphingolipid activator protein 1 deficiency |
| RS767713908 | Health Risk | Pathogenic/Likely pathogenic | Sphingolipid activator protein 1 deficiency, Parkinson disease 24, autosomal dominant |
| RS770171865 | Health Risk | Pathogenic/Likely pathogenic | Sphingolipid activator protein 1 deficiency, Metachromatic leukodystrophy, Combined PSAP deficiency |
| RS1842252448 | Health Risk | risk factor | Parkinson disease 24, autosomal dominant, susceptibility to |
| RS2133029712 | Health Risk | risk factor | Parkinson disease 24, autosomal dominant, susceptibility to |