GALNS (NM_000512) Human Recombinant Protein

Product Specifications

Background

This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]

Overview

Recombinant protein of human galactosamine (N-acetyl) -6-sulfate sulfatase (GALNS)

Synonyms

GalN6S; GALNAC6S; GAS; MPS4A

Gene ID

2588

UniProt

P34059, Q96I49

Accession Number mRNA

NM_000512

Chromosomal Location

16q24.3

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

Molecular Weight

55.4 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.