Recombinant Human N-Acetylgalactosamine-6-Sulfatase (GALNS) Protein (GST)

Name: Recombinant Human N-Acetylgalactosamine-6-Sulfatase (GALNS) Protein (GST)
Brand: Beta LifeScience
SKU: BLC-03680P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human N-Acetylgalactosamine-6-Sulfatase (GALNS) Protein (GST) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	P34059
Target Symbol	GALNS
Synonyms	GALNSN-acetylgalactosamine-6-sulfatase; EC 3.1.6.4; Chondroitinsulfatase; Chondroitinase; Galactose-6-sulfate sulfatase; GalN6S; N-acetylgalactosamine-6-sulfate sulfatase; GalNAc6S sulfatase
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-GST
Target Protein Sequence	APQPPNILLLLMDDMGWGDLGVYGEPSRETPNLDRMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQGGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH
Expression Range	27-522aa
Protein Length	Full Length of Mature Protein
Mol. Weight	82.4kDa
Research Area	Signal Transduction
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Subcellular Location	Lysosome.
Protein Families	Sulfatase family
Database References	HGNC: 4122 OMIM: 253000 KEGG: hsa:2588 STRING: 9606.ENSP00000268695 UniGene: Hs.271383
Associated Diseases	Mucopolysaccharidosis 4A (MPS4A)

Gene Functions References

Enzyme replacement therapy (ERT) with recombinant human GALNS (elosulfase alfa, Vimizim(R), BioMarin Pharmaceutical Inc., Novato, CA) has recently been approved as a treatment option for Morquio A. Elosulfase alfa enzyme replacement therapy associated with long-term endurance improvements in Morquio A. PMID: 27380995
Missense mutation of GALNS is associated with mucopolysaccharidosis type IV A. PMID: 28397226
Clinical evaluation and biochemical GALNS enzyme activity determination were carried out for the patients from four unrelated Egyptian families. Sequence analysis revealed four novel mutations; three nonsense mutations (p.Q12X, p.Q220X, p.Y254X) and one missense mutation, p.D40G. All four patients were offspring of consanguineous marriages and were homozygous for the corresponding mutation. PMID: 27825773
A new GALNS intronic lesion was characterized: c.245-11C>G causing m-RNA defects, although identified outside the GT/AG splice pair. PMID: 25545067
The goals were to analyze and characterize the secondary structure, regions of intrinsic disorder and physicochemical characteristics of three classes of mutations described in the enzyme N-acetylgalactosamine-6-sulfatase. PMID: 25501214
A review of mutations in the GALNS gene associated with Morquio A syndrome. PMID: 25137622
Molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function. PMID: 24726177
2 unrelated Turkish patients had 2 homozygous known mutations: p.L390X in exon 11 and p.W141R in exon 4. The p L390X mutation was associated with 4 novel polymorphisms in intron 2, intron 5 and intron 6 and a known polymorphism in exon 7. PMID: 24411403
Here we present 53 mutations including 19 novel mutations in GALNS gene in a cohort of 55 patients PMID: 23876334
GALNS gene 5 new mutations: p.N177S, p.G290R, p.F306S, p.W520X, p.W403_T404delinsCS in the mucopolysaccharidosis IVA patients in South China PMID: 24035930
Novel mutations in the GALNS gene associated with mucopolysaccharidosis IVA in Korean patients. PMID: 23401410
missense mutation in GALNS is associated with a severe form of mucopolysaccharidosis type IVA. PMID: 23313879
Comparison of the structure of GALNS to paralogous sulfatases shows a wide variety of active-site geometries in the family but strict conservation of the catalytic machinery PMID: 22940367
Screening of mutations and polymorphisms in GALNS gene provide useful information on genotype/phenotype correlations. PMID: 22078177
Mucopolysaccharidosis type IVA or Morquio A syndrome is characterized by the lack of N-acetylgalactosamine-6-sulfate-sulfatase and the accumulation of keratan sulfate and chondroitin-6-sulfate in the lysosomes. PMID: 21251309
GALNS mutations are associated with Mucopolysaccharidosis IVA. PMID: 20574428
6-bp deletion in exon 1 of GALNS gene. PMID: 11524742
Beside mutations, one previously identified E477 polymorphism and one novel W520 polymorphism were found among Turkish MPS IVA patients. PMID: 12442278
Mutation 1374delT introduces premature termination of GALNS, causing mucopolysaccharidosis IVA. PMID: 12721840
Ten novel mutations in GALNS in Italian Mucopolysaccharidosis IVA patients. PMID: 15241807
26 novel mutations within the GALNS gene are associated with mucopolysaccharidosis IVA. A genotype/phenotype correlation was defined in some mutations. PMID: 16287098
GALNS mutations in six severe Mucopolysaccharidosis type IVA (MPS IVA) patients from four unrelated Tunisian families. PMID: 16378744
effect of repeated intra-articular injections (IA INJ) of recombinant human acetylgalactosamine-4-sulfatase on degenerative joint disease in an animal model. PMID: 17544310
In mucopolysaccharidosis IVA 'attenuated' mutant enzymes are heterogeneous in molecular phenotypes, including biochemical properties and tertiary structure. PMID: 17876718
modification of expression of the lysosomal sulfatases ASB and GALNS regulates the content of CSs. PMID: 18285341
This paper focuses on the study of the GALNS gene and mRNAs in two severe forms of Morquio A patients' fibroblasts. PMID: 18710657
Results describe the quantitative relationship between the mutant N-acetylgalactosamine-6-sulfatase and the occurrence of mucopolysaccharidosis IVA. PMID: 19373925
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase has an impact on the phenotypic properties of chondrocytes, resulting in the formation of cartilage that is more prone to degeneration. PMID: 19394256

FAQs

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

To learn more about how to properly dissolve the lyophilized recombinant protein, please visit Lyophilization FAQs.