BLOC1S2 Human

Biogenesis of Lysosomal Organelles Complex-1, Subunit 2 Human Recombinant
Cat. No.
BT27911
Source
E.coli.
Synonyms
Biogenesis of lysosomal organelles complex-1 subunit 2, BLOS2, BLOC-1 subunit 2, Centrosome-associated protein, centrosome protein oncogene, centrosomal 10 kDa protein, RP11-316M21.4, CEAP, FLJ30135, MGC10120.
Appearance
Sterile Filtered colorless solution.
Purity
Greater than 85% as determined by SDS-PAGE.
Usage
THE BioTek's 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.
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Description

BLOC1S2 Human Recombinant produced in E. coli is a single polypeptide chain containing 166 amino acids (1-142) and having a molecular mass of 18.5kDa.
BLOC1S2 is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Product Specs

Introduction
BLOC1S2, a member of the BLOC1S2 family, is part of the Biogenesis of lysosome-related organelles complex 1 (BLOC-1). This complex is found in cells everywhere and is crucial for the proper formation of specialized compartments within the cell's recycling and waste disposal system. These compartments, such as melanosomes and platelet dense granules, play specific roles in cellular functions. BLOC1S2 is also involved in cell proliferation.
Description
This product consists of the human BLOC1S2 protein, manufactured in E. coli bacteria. It is a single chain of 166 amino acids (specifically amino acids 1 to 142 of the natural sequence) with a molecular weight of 18.5 kDa. For purification and detection purposes, a 24 amino acid His-tag is attached to the protein's N-terminus. The final product is purified using specialized chromatographic methods.
Physical Appearance
A clear and sterile solution.
Formulation
The BLOC1S2 protein is provided in a solution containing 1 mg of protein per 1 ml of buffer. The buffer consists of 20 mM Tris-HCl (pH 8.0), 50 mM NaCl, 1 mM DTT, and 10% glycerol.
Stability
For short-term storage (up to 2-4 weeks), keep the solution refrigerated at 4°C. For longer storage, freeze the solution at -20°C. Adding a carrier protein (0.1% HSA or BSA) is recommended for extended storage. Repeated freezing and thawing of the solution should be avoided.
Purity
The purity of the BLOC1S2 protein is greater than 85%, as assessed by SDS-PAGE analysis.
Synonyms
Biogenesis of lysosomal organelles complex-1 subunit 2, BLOS2, BLOC-1 subunit 2, Centrosome-associated protein, centrosome protein oncogene, centrosomal 10 kDa protein, RP11-316M21.4, CEAP, FLJ30135, MGC10120.
Source
E.coli.
Amino Acid Sequence
MGSSHHHHHH SSGLVPRGSH MGSHMAAAAE GVLATRSDEP ARDDAAVETA EEAKEPAEAD ITELCRDMFS KMATYLTGEL TATSEDYKLL ENMNKLTSLK YLEMKDIAIN ISRNLKDLNQ KYAGLQPYLD QINVIEEQVA ALEQAAYKLD AYSKKLEAKY KKLEKR

Product Science Overview

Introduction

The Biogenesis of Lysosomal Organelles Complex-1, Subunit 2 (BLOC1S2) is a crucial component of the BLOC-1 complex, which plays a significant role in the formation and function of lysosome-related organelles (LROs). These organelles include melanosomes, platelet dense granules, and other specialized vesicles essential for various cellular processes.

Gene and Protein Information

The BLOC1S2 gene encodes a protein that is part of the BLOC-1 complex. This protein is involved in the biogenesis of LROs, which are essential for the proper functioning of cells. The gene is located on chromosome 10 and has several aliases, including BLOS2, BORCS2, and CEAP11 .

Biological Functions

The BLOC-1 complex, including BLOC1S2, is required for the normal biogenesis of LROs. These organelles are crucial for various cellular functions, such as pigmentation, blood clotting, and immune responses. The BLOC-1 complex works in concert with the AP-3 complex to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals .

Additionally, the BLOC-1 complex, in association with SNARE proteins, is proposed to be involved in neurite extension. As part of the BORC complex, BLOC1S2 may play a role in lysosome movement and localization at the cell periphery. The BORC complex is associated with the cytosolic face of lysosomes and may recruit ARL8B to couple lysosomes to microtubule plus-end-directed kinesin motor .

Clinical Significance

Mutations in the BLOC1S2 gene have been associated with various disorders, including Hermansky-Pudlak Syndrome (HPS) and Hypokalemic Periodic Paralysis, Type 1. HPS is a rare genetic disorder characterized by albinism, bleeding disorders, and lung fibrosis. The involvement of BLOC1S2 in the biogenesis of LROs highlights its importance in maintaining normal cellular functions and preventing disease .

Recombinant BLOC1S2

Recombinant BLOC1S2 is a human-made version of the protein, produced using recombinant DNA technology. This technology allows for the production of large quantities of the protein for research and therapeutic purposes. Recombinant BLOC1S2 can be used to study the protein’s function, interactions, and role in disease, as well as to develop potential treatments for disorders associated with BLOC1S2 mutations .

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