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.