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GM2A

Basics

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

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:
HGNC Name: GM2A

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.

2015 Steering Committee Meeting

The next EDRN Steering Committee Meeting will take place March 31st through April 2nd, 2015, in Atlanta, Georgia.

Announcement 02/12/2015

Please register for the 29th EDRN Steering Committee Meeting in Atlanta, GA from March 31-April 2, 2015. The registration page has information about booking hotel rooms and a draft agenda of the meeting.

Announcement