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PSAP

Basics

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

View in BioMuta

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.

Resources

No associated resources found.

Announcement 10/07/2014

EDRN Patient Advocates will host an EDRN Advocacy Educational Webinar, Biomarkers for Prostate Cancer Detection and Monitoring, on Monday, January 12th, 2015, at 1 p.m. EDT / 10 a.m. PDT. Registration is not required for this. Please click for more information.
Announcement 09/14/2014

Thank you to everyone who helped make the 9th EDRN Scientific Workshop a success. We look forward to seeing everyone at the 28th EDRN Steering Committee Meeting from March 31-April 2, 2015, in Atlanta, GA.