GNS (NM_002076) Human Recombinant Protein
Product Specifications
Background
The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome) . Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
Overview
Recombinant protein of human glucosamine (N-acetyl) -6-sulfatase (GNS)
Synonyms
G6S
Gene ID
2799
UniProt
P15586, A0A024RBC5, Q7Z3X3
Accession Number mRNA
NM_002076
Chromosomal Location
12q14.3
Expression System
HEK293T
Tag
C-Myc/DDK
Related Pathways
Glycosaminoglycan degradation, Lysosome, Metabolic pathways
Field of Research
Glycosaminoglycan degradation, Lysosome, Metabolic pathways
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, Transmembrane
Molecular Weight
58.3 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
GNS
Species
Human
Protein ID
NP_002067
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/2799
Uniprot URL
https://www.uniprot.org/uniprot/P15586
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_002076
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_002067
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