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GM2A

Basics

Aliases:
This biomarker is also known as:
  • GM2 ganglioside activator,
  • sphingolipid activator protein 3,
  • GM2 ganglioside activator protein,
  • cerebroside sulfate activator protein,
  • SAP-3,

View in BioMuta

Description…

GM2A, a small glycolipid transport protein, acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing of the GM2A gene results in multiple transcript variants. In post-translational modification the serines in positions 32 and 33 are absent in 80% of the sequenced protein.

Attributes

QA State: Under Review
Type: Protein
Short Name:

Datasets

There are no datasets associated with this biomarker.

Organs

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.

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

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.

Resources

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.

News

The final report of the 2013 Cancer Biomarkers Bioinformatics Workshop is now available.

Announcement 03/06/2014

Thank you to everyone who helped make the 27th EDRN Steering Committee Meeting a success. We look forward to seeing everyone at the 9th EDRN Scientific Workshop from September 8-11, 2014 in Washington D.C.

Announcement