Analytical Data
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Gene name
BLOC1S2
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简介
BLOC1S2 is an essential component of the BLOC-1 complex and is critical for the biogenesis of lysosome-related organelles (LROs), including platelet dense granules and melanosomes. BLOC-1 cooperates with the AP-3 complex to direct membrane protein cargo into vesicles for delivery to neurites and nerve terminals, suggesting that it is involved in neurite extension. BLOC1S2 Protein, Human (GST) is the recombinant human-derived BLOC1S2 protein, expressed by E. coli , with no tagged.
- Application
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Alternative Names
Biogenesis of lysosome-related organelles complex 1 subunit 2; BLOC-1 subunit 2; BLOS2; CEAP
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Species
Human
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Source
E. coli
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Tag
Tag Free
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Purity
Greater than 90% as determined by SDS-PAGE.
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Uniprot
Q6QNY1-2
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Expression Region
M1-R99
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Protein Length
Full Length of Isoform-2
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Molecular Weight
11.35 kDa.
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Endotoxin
< 1.0 EU per μg protein as determined by the LAL method.
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Form
Freeze-dried powder
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Buffer formulation
PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.
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Reconstitution
Reconstitute in ddH2O to a concentration of 0.1-0.5 mg/mL. Do not vortex.
- Customization
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Stability Test
The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37℃ for 48h, and no obvious degradation and precipitation were observed. The loss rate isless than 8% within the expiration date under appropriate storage condition.
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Storage & Shelf Life
Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
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Shipping
In general, recombinant proteins are supplied as lyophilized powder and shipped at ambient temperature. For bulk packages, the proteins are provided as frozen liquid and shipped with blue ice, unless otherwise requested by the customer.
Quality inspection process
Related Products
Protein Description
BLOC1S2, a crucial component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1), plays a significant role in cellular processes associated with the trafficking of proteins and lipids to lysosome-related organelles. Mutations in the BLOC1S2 gene are linked to a subset of Hermansky-Pudlak Syndrome (HPS), a genetic disorder characterized by oculocutaneous albinism, bleeding tendencies, and pulmonary fibrosis. The understanding of BLOC1S2's structure and function is vital for unraveling the molecular mechanisms underlying these disorders. Recent studies have highlighted the protein’s involvement in cellular transport mechanisms and its interaction with other proteins within the BLOC-1 complex. Investigating BLOC1S2 not only enhances our knowledge of lysosomal function and organelle biogenesis but also has potential implications for developing therapeutic strategies for HPS and related diseases. Understanding the role of BLOC1S2 in pathophysiology can provide insights into broader cellular dysfunctions and may lead to targeted interventions that restore normal trafficking processes in affected cells. This research is, therefore, pivotal in bridging basic biological insights with clinical applications, aiming to ameliorate the quality of life for individuals affected by such genetic disorders.
