GM2A

GENE INFORMATION

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Gene name

GM2A (HGNC Symbol)

Synonyms

SAP-3

Description

GM2 ganglioside activator (HGNC Symbol)

Entrez gene summary

This gene encodes a small glycolipid transport protein which 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 results in multiple transcript variants. [provided by RefSeq, Nov 2009]

Chromosome

5

Cytoband

q33.1

Chromosome location (bp)

151212150 - 151270440

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000196743 (version 78.38)

Entrez gene

2760

UniProt

P17900 (UniProt - Evidence at protein level)

neXtProt

NX_P17900

Antibodypedia

GM2A antibodies
 

PROTEIN VIEW

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GM2A-001
 
GM2A-002
 
GM2A-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GM2A-001 ENSP00000349687
ENST00000357164
P17900
Show all »
Show » Show » 193 20.8 Yes 0
GM2A-002 ENSP00000430541
ENST00000523004
Show » 104 11.2 No 0
GM2A-004 ENSP00000429100
ENST00000523466
E5RJD0
Show all »
Show » Show » 146 16.1 No 0