PSAP

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

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.

Datasets

There are no datasets associated with this biomarker.

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

The following organs have data associated with this biomarker…

Attributes

Phase: 1
QA State: Curated
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

No associated publications found.

No other associated resources found.

Version 5.1.0