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PSAP

Basics

Aliases:
This biomarker is also known as:
  • FLJ00245,
  • Proactivator polypeptide,
  • sphingolipid activator protein-1,
  • SAP1,
  • prosaposin,
  • variant Gaucher disease and variant metachromatic leukodystrophy,
  • MGC110993,
  • GLBA,

Description…

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.

Attributes

QA State: Curated
Type: Protein
Short Name:
HGNC Name: PSAP

Datasets

There are no datasets associated with this biomarker.

Organs

The following organs have data associated with this biomarker…

Ovary

Attributes

Phase: One
QA State: Curated

Overview

Performance Comment

Studies

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Publications

No associated publications found.

Biomuta

Mutation Statistics

Gene Name: PSAP
UniProt Accession #: P07602
Mutated Sites Count: 116
Associated Pubmed ID Count 12
CancerDO Count 21
Affected Protein Function Sites Count: 4

View in BioMuta