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]
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.
Symbol
GALNS
Species
Human
Protein ID
NP_000503
Overview
Recombinant protein of human galactosamine (N-acetyl) -6-sulfate sulfatase (GALNS)
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/2588
Uniprot URL
https://www.uniprot.org/uniprot/P34059
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_000512
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_000503
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