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GM2A GM2 ganglioside activator [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000405 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_001167607 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $399.00 14

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Related Services

Gene Symbol GM2A
Entrez Gene ID 2760
Full Name GM2 ganglioside activator
Synonyms GM2-AP, SAP-3
General protein information
Preferred Names
ganglioside GM2 activator
Names
ganglioside GM2 activator
shingolipid activator protein 3
sphingolipid activator protein 3
cerebroside sulfate activator protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q33.1

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].
Disorder

MIM: 613109

GM2-gangliosidosis, AB variant, 272750 (3)

mRNA Protein Product Sequence Price Select
NM_000405, 189083783 NP_000396, 39995109 ganglioside GM2 activator isoform 1 precursor ORF Sequence $250.00
NM_001167607, 263190473 NP_001161079, 263190474 ganglioside GM2 activator isoform 2 precursor ORF Sequence $250.00
KEGG
hsa04142Lysosome
Reactome
REACT_19323Sphingolipid metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_116105Glycosphingolipid metabolism
Homo sapiens (human)GM2ANP_000396.2
Pan troglodytes (chimpanzee)GM2AXP_003950707.1
Macaca mulatta (Rhesus monkey)LOC713375XP_001109570.1
Canis lupus familiaris (dog)GM2AXP_003639059.1
Bos taurus (cattle)GM2ANP_001192476.1
Mus musculus (house mouse)Gm2aNP_034429.1
Rattus norvegicus (Norway rat)Gm2aNP_758838.2
Gallus gallus (chicken)GM2AXP_003642107.2
Danio rerio (zebrafish)gm2aNP_001017831.1
Xenopus (Silurana) tropicalis (western clawed frog)gm2aNP_001017081.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100495195XP_002932357.2
Process
IDNameEvidence
GO:0006665sphingolipid metabolic processTAS
GO:0006687glycosphingolipid metabolic processTAS
GO:0006689ganglioside catabolic processIEA
GO:0006869lipid transportIEA
GO:0007611learning or memoryIEA
GO:0009313oligosaccharide catabolic processIEA
GO:0019915lipid storageIEA
GO:0044281small molecule metabolic processTAS
GO:0050885neuromuscular process controlling balanceIEA
GO:0051345positive regulation of hydrolase activityIEA
Component
IDNameEvidence
GO:0005739mitochondrionIEA
GO:0009898cytoplasmic side of plasma membraneIEA
GO:0043202lysosomal lumenTAS
GO:0045179apical cortexIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004563beta-N-acetylhexosaminidase activityIEA
GO:0005319lipid transporter activityIEA
GO:0016004phospholipase activator activityIEA
GeneCards GM2A
PDB 2AG2, 1G13, 1TJJ, 1PU5, 2AF9, 1PUB, 2AG4, 2AG9
UniProt P17900
Vega OTTHUMG00000130124
MIM 613109
Ensembl ENSG00000196743
HGNC 4367
HPRD 02034

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the GM2A gene?

The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is necessary for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord (central nervous system). Beta-hexosaminidase A and the GM2 ganglioside activator protein work together in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, the activator protein binds to a fatty substance called GM2 ganglioside and presents it to beta-hexosaminidase A to be broken down.

Interactant

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