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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
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_120870Phospholipid metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_116105Glycosphingolipid metabolism
REACT_111217Metabolism
Homo sapiens (human)GM2ANP_000396.2
Pan troglodytes (chimpanzee)GM2AXP_527083.2
Macaca mulatta (Rhesus monkey)LOC713375XP_001109570.1
Canis lupus familiaris (dog)LOC100855818XP_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)LOC100857973XP_003642107.1
Danio rerio (zebrafish)gm2aNP_001017831.1
GeneCards GM2A
PDB 2AG2, 1G13, 1TJJ, 1PU5, 2AF9, 1PUB, 2AG4, 2AG9
UniProt P17900
MIM 613109
Ensembl ENSG00000196743
HGNC 4367
HPRD 02034

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

General protein information

Preferred Names
ganglioside GM2 activator
Names
ganglioside GM2 activator
shingolipid activator protein 3
sphingolipid activator protein 3
cerebroside sulfate activator protein

Interactant



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