Recombinant Human SGSH, MYC/DDK-tagged
Cat.No. : | SGSH-279H |
Product Overview : | Recombinant Human SGSH fused with C-terminal MYC/DDK, was expressed in HEK293 Cells. |
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- Gene Information
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Cat. No. : | SGSH-279H |
Description : | This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. |
Source : | HEK293 Cells |
Molecular Mass : | 54.6 kDa |
Purity : | >80% as determined by SDS-PAGE and Coomassie blue staining |
Storagebuffer : | 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol. |
Concentration : | >50 ug/mL as determined by microplate BCA method |
Preparation : | Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps. |
Storage : | Store at -800C. Avoid repeated freeze-thaw cycles. Stable for at least 3 months from receipt of products under proper storage and handling conditions. |
OfficialSymbol : | SGSH |
Gene Name : | SGSH N-sulfoglucosamine sulfohydrolase [ Homo sapiens ] |
Synonyms : | SGSH; N-sulfoglucosamine sulfohydrolase; HSS; MPS3A; mucopolysaccharidosis type IIIA; SFMD; sulfamidase; heparan sulfate sulfatase; sulfoglucosamine sulfamidase; N-sulphoglucosamine sulphohydrolase; EC 3.10.1.1; Sulfoglucosamine sulfamidase; Sulphamidase |
Gene ID : | 6448 |
mRNA Refseq : | NM_000199 |
Protein Refseq : | NP_000190 |
MIM : | 605270 |
UniProt ID : | P51688 |
Chromosome Location : | 17q25.3 |
Pathway : | Glycosaminoglycan degradation; Heparan sulfate degradation; Lysosome; MPS I - Hurler syndrome |
Function : | N-sulfoglucosamine sulfohydrolase activity; catalytic activity; metal ion binding; sulfuric ester hydrolase activity |
Products Types
◆ Recombinant Protein | ||
SGSH-1998H | Recombinant Human SGSH Protein, His (Fc)-Avi-tagged | +Inquiry |
Sgsh-5829M | Recombinant Mouse Sgsh Protein, Myc/DDK-tagged | +Inquiry |
SGSH-695H | Recombinant Human SGSH Protein, His/GST-tagged | +Inquiry |
SGSH-6660Z | Recombinant Zebrafish SGSH | +Inquiry |
SGSH-301590H | Recombinant Human SGSH protein, GST-tagged | +Inquiry |
◆ Lysates | ||
SGSH-1884HCL | Recombinant Human SGSH 293 Cell Lysate | +Inquiry |
Related Gene
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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Q&As (7)
Ask a questionChallenges include the need for efficient delivery of therapies to affected tissues and overcoming the blood-brain barrier to treat neurological manifestations. The heterogeneous nature of lysosomal storage disorders and individual variations in disease progression pose additional challenges. Limited understanding of disease mechanisms and lack of validated biomarkers also hinder the development of targeted treatments.
Future research could focus on elucidating the molecular mechanisms underlying SGSH deficiency and lysosomal dysfunction, exploring novel therapeutic targets, and improving delivery methods for effective treatment. Advances in gene editing technologies, such as CRISPR/Cas9, may also offer potential avenues for correcting genetic mutations leading to SGSH deficiency, thus providing a curative approach to lysosomal storage disorders.
SGSH deficiency impacts numerous cellular pathways and physiological systems. The accumulation of undegraded heparan sulfate disrupts intracellular trafficking, impairs lysosomal function, and triggers inflammation. These cascading effects lead to cognitive decline, neurological manifestations, skeletal abnormalities, connective tissue damage, and organ dysfunction observed in lysosomal storage disorders associated with SGSH deficiency.
Therapeutic strategies aim to address SGSH deficiency by introducing functional SGSH proteins or enhancing their activity. This includes enzyme replacement therapy, which delivers exogenous SGSH to degrade accumulated heparan sulfate. Additionally, gene therapy techniques and small molecule-based chaperone therapy are being explored to restore or stabilize SGSH expression and function.
The SGSH protein adopts a compact globular fold with distinctive domains responsible for substrate binding and catalytic activity. This structural arrangement allows SGSH to efficiently interact with heparan sulfate molecules within lysosomes, facilitating their degradation. The tight folding of SGSH enables precise coordination of enzymatic residues, ensuring optimal hydrolysis of sulphated glucosamine residues in heparan sulfate.
Without functional SGSH, heparan sulfate cannot be properly catabolized. This results in the accumulation of undegraded heparan sulfate within lysosomes, leading to cellular dysfunction and tissue damage characteristic of mucopolysaccharidosis type III. The lack of SGSH-mediated hydrolysis prevents the timely clearance of sulphated glucosamine residues, disrupting cellular processes and compromising tissue homeostasis.
SGSH-related disorders are diagnosed through clinical evaluations, enzyme activity assays, genetic testing, and analysis of urinary glycosaminoglycans. Once diagnosed, management of SGSH deficiency aims to alleviate symptoms and provide supportive care. This can include enzyme replacement therapy, which involves regular administration of the missing or malfunctioning SGSH enzyme. Symptom-specific interventions, such as developmental interventions, behavioral therapies, and medications, may also be utilized. Close monitoring and multidisciplinary care are essential for optimizing the quality of life for individuals with SGSH-related disorders.
Customer Reviews (3)
Write a reviewThe shelf life of this reagent is long, ensuring the feasibility of long-term experiments.
As an outstanding product, it enables me to effectively showcase my research findings.
Playing a crucial role in providing technical support, this experimental reagent enables me to focus on experimental design and data analysis.
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