SBDS Human
Shwachman-Bodian-Diamond Syndrome Human Recombinant
Cat. No.
BT14264
Source
Escherichia Coli.
Synonyms
SDS, SWDS, Shwachman-Bodian-Diamond syndrome, Ribosome Maturation protein SBDS.
Appearance
Sterile Filtered clear solution.
Purity
Greater than 95% as determined by SDS-PAGE.
Usage
THE BioTeks products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.
Shipped with Ice Packs 
In Stock 
Description
SBDS produced in E.Coli is a single, non-glycosylated polypeptide chain containing 270 amino acids (1-250a.a.) and having a molecular mass of 30.9kDa.
SBDS is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
SBDS is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Introduction
The SBDS protein plays a crucial role in ribosome biogenesis and translational activation. It is highly conserved across various species, highlighting its importance in cellular function. Mutations in the SBDS gene lead to Shwachman-Diamond syndrome, a rare genetic disorder.
Description
This product consists of the recombinant human SBDS protein, expressed in E. coli and purified to a high degree. It is a single, non-glycosylated polypeptide chain comprising 270 amino acids (residues 1-250) with a molecular weight of 30.9 kDa. For purification purposes, a 20 amino acid His-tag is present at the N-terminus.
Physical Appearance
Clear, colorless and sterile-filtered solution.
Formulation
The SBDS protein is supplied at a concentration of 0.5 mg/mL in a buffer consisting of 20 mM Tris-HCl (pH 8.0), 2 mM DTT, 50 mM NaCl, 0.1 mM EDTA, and 20% glycerol.
Purity
The purity of the SBDS protein is greater than 95% as determined by SDS-PAGE analysis.
Stability
For short-term storage (up to 4 weeks), the product can be stored at 4°C. For long-term storage, it is recommended to store the protein at -20°C. Avoid repeated freeze-thaw cycles to maintain protein stability.
Synonyms
SDS, SWDS, Shwachman-Bodian-Diamond syndrome, Ribosome Maturation protein SBDS.
Source
Escherichia Coli.
Amino Acid Sequence
MGSSHHHHHH SSGLVPRGSH MSIFTPTNQI RLTNVAVVRM KRAGKRFEIA CYKNKVVGWR SGVEKDLDEV LQTHSVFVNV SKGQVAKKED LISAFGTDDQ TEICKQILTK GEVQVSDKER HTQLEQMFRD IATIVADKCV NPETKRPYTV ILIERAMKDI HYSVKTNKST KQQALEVIKQ LKEKMKIERA HMRLRFILPV NEGKKLKEKL KPLIKVIESE DYGQQLEIVC LIDPGCFREI DELIKKETKG KGSLEVLNLK DVEEGDEKFE
Product Science Overview
Introduction
Shwachman-Bodian-Diamond Syndrome (SBDS), also known as Shwachman-Diamond Syndrome (SDS), is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. It is caused by mutations in the SBDS gene, which is located on the long arm of chromosome 7 at cytogenetic position 7q11 .
Genetic Basis
The SBDS gene is composed of five exons and has an associated mRNA transcript that is 1.6 kilobase pairs in length . Mutations in this gene lead to a loss of function, resulting in the clinical manifestations of the syndrome. The SBDS protein is involved in ribosome biogenesis and cellular stress responses .
Clinical Features
The clinical features of SBDS are diverse and can vary significantly among affected individuals. The three major clinical features are:
- Peripheral Blood Cytopenia: This includes neutropenia, anemia, and thrombocytopenia. Neutropenia is the most common hematological finding and can be intermittent or persistent, leaving patients at risk of severe recurrent infections .
- Exocrine Pancreatic Dysfunction: This arises due to a lack of acinar cells that produce digestive enzymes, leading to malabsorption and failure to thrive .
- Skeletal Abnormalities: These include metaphyseal dysostosis, thoracic dystrophy, and costochondral thickening. Growth retardation is also common, with more than 50% of patients being below the third percentile for height .
Epidemiology
Diagnosis
Treatment and Management
There is no cure for SBDS, and treatment is primarily supportive. Management includes:
- Hematological Support: Regular monitoring of blood counts and treatment of infections.
- Pancreatic Enzyme Replacement Therapy: To aid in digestion and improve nutritional status.
- Growth Hormone Therapy: In some cases, to address growth retardation.
- Bone Marrow Transplantation: For patients with severe bone marrow failure or those who develop hematologic malignancies .
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