Aliases:This biomarker is also known as:
- variant Gaucher disease and variant metachromatic leukodystrophy,
- sphingolipid activator protein-1,
- Proactivator polypeptide,
The PSAP gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: 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, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms.
There are no datasets associated with this biomarker.
The following organs have data associated with this biomarker…
No associated publications found.
- HGNC entry for PSAP from Genenames
- KEGG entry for PSAP from Genome.jp
- Entrez entry for PSAP all NCBI Databasese
- Human GEO Profiles for PSAP from NCBI GEO Profiles
- Human Geo Datasets containing term PSAP from NCBI GEO Datasets
- GWAS Study Datasets containing gene PSAP from GWAS
- Human Single Nucleotide Polymorphisms info for PSAP
- Human Gene(s) with 'PSAP' as Gene Name/Alias
- Human Gene RefSeq for PSAP from NCBI
- UniProtKB/Swiss-Prot entry for PSAP from Uniprot
- Human Protein RefSeq for PSAP from NCBI
- FDA web page describing approval of PSAP
No other associated resources found.
|UniProt Accession #:||P07602|
|Mutated Sites Count:||116|
|Associated Pubmed ID Count||12|
|Affected Protein Function Sites Count:||4|