GM2A (NM_000405) Human Recombinant Protein
Product Specifications
Background
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]
Synonyms
GM2-AP; SAP-3
Gene ID
2760
UniProt
P17900
Accession Number mRNA
NM_000405
Chromosomal Location
5q33.1
Expression System
HEK293T
Tag
C-Myc/DDK
Related Pathways
Lysosome
Field of Research
Lysosome
Concentration
>50 ug/mL as determined by microplate BCA method
Purity
> 80% as determined by SDS-PAGE and Coomassie blue staining
Form
Liquid
Buffer
25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
Function
Druggable Genome
Molecular Weight
20.7 kDa
Storage Conditions
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.
Symbol
GM2A
Species
Human
Protein ID
NP_000396
Overview
Recombinant protein of human GM2 ganglioside activator (GM2A)
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/2760
Uniprot URL
https://www.uniprot.org/uniprot/P17900
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_000405
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_000396
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