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GM2A GM2 ganglioside activator [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu26321 NM_000405 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu27665 NM_001167607 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu26321C NM_000405 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA. Customized vector On-demand 7-9 $209.00
OHu27665C NM_001167607 Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 2, mRNA. Customized vector On-demand 7-9 $209.00

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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?

Interactant

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