DTNBP1 Human

Dystrobrevin-Binding Protein 1 Isoform C Human Recombinant
Cat. No.
BT5591
Source
Escherichia Coli.
Synonyms
Dysbindin, SDY, DBND, HPS7, My031, FLJ30031, MGC20210, DKFZp564K192, Dystrobrevin-binding protein 1, Hermansky-Pudlak syndrome 7 protein homolog, Hps7-like protein, DTNBP1.
Appearance
Sterile Filtered colorless solution.
Purity
Greater than 95.0% 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

DTNBP1 Human Recombinant fused to 37 a.a. N-terminal His-Tag produced in E.Coli is a single, non-glycosylated polypeptide chain containing 307 amino acids (1-270a.a.) and having a molecular mass of 34.6 kDa.

Product Specs

Introduction
DTNBP1 is a gene that plays a role in the formation of organelles, specifically melanosomes (involved in pigmentation), platelet dense granules (important for blood clotting), and lysosomes (responsible for cellular waste breakdown). In mice, a similar protein is part of a complex called BLOC-1 and interacts with dystrobrevins, which are connected to the dystrophin-associated protein complex (DPC). Mutations in the DTNBP1 gene are linked to a rare disorder called Hermansky-Pudlak syndrome type 7. Additionally, there may be a connection between the DTNBP1 gene and schizophrenia.
Description
This product consists of the human DTNBP1 protein, produced in E. coli bacteria. It is engineered to include a His-Tag at the N-terminal for purification purposes. This single polypeptide chain is not glycosylated, contains 307 amino acids (specifically amino acids 1 through 270 of the original sequence), and has a molecular weight of 34.6 kDa.
Physical Appearance
A clear and colorless solution that has been sterilized through filtration.
Formulation
The DTNBP1 protein is provided in a solution containing 20mM Tris buffer with a pH of 8, 0.5mM DTT (a reducing agent), 0.1M NaCl (salt), and 20% glycerol (for stability).
Stability
For short-term storage (2-4 weeks), keep the solution refrigerated at 4°C. For longer storage, freeze the solution at -20°C. It is recommended to add a carrier protein like HSA or BSA (0.1%) for long-term storage to maintain protein stability. Avoid repeatedly freezing and thawing the solution.
Purity
The purity of DTNBP1 protein in this product is over 95%, as determined by SDS-PAGE analysis.
Synonyms
Dysbindin, SDY, DBND, HPS7, My031, FLJ30031, MGC20210, DKFZp564K192, Dystrobrevin-binding protein 1, Hermansky-Pudlak syndrome 7 protein homolog, Hps7-like protein, DTNBP1.
Source
Escherichia Coli.
Amino Acid Sequence

MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSHMLS AHWEKKKTSL VELQEQLQQL PALIADLESM TANLTHLEAS FEEVENNLLHLEDLCGQCEL ERCKHMQSQQ LENYKKNKRK ELETFKAELD AEHAQKVLEM EHTQQMKLKE RQKFFEEAFQ QDMEQYLSTG YLQIAERREP IGSMSSMEVN VDMLEQMDLM DISDQEALDV FLNSGGEENT VLSPALGPES STCQNEITLQ VPNPSELRAK PPSSSSTCTD SATRDISEGG ESPVVQSDEE EVQVDTALAT SHTDREATPD GGEDSDS.

Product Science Overview

Introduction

Dystrobrevin-Binding Protein 1 (DTNBP1), also known as dysbindin, is a protein encoded by the DTNBP1 gene located on chromosome 6p22.3. This protein is a part of the dystrophin-associated protein complex (DPC), which plays a crucial role in linking the cytoskeleton to the extracellular matrix and serves as a scaffold for signaling proteins .

Structure and Isoforms

DTNBP1 has multiple isoforms, with Isoform C being one of them. Isoform C is a human recombinant protein, meaning it is produced through recombinant DNA technology, which allows for the expression of the protein in a host organism, typically bacteria or yeast. This method ensures a high yield and purity of the protein for research and therapeutic purposes .

Function and Significance

Dysbindin, including its Isoform C, is an essential component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). It interacts with all seven other components of BLOC-1, playing a significant role in the formation and function of lysosome-related organelles . Additionally, dysbindin is involved in synaptic function and neurotransmitter release, particularly in glutamatergic neurons .

Clinical Relevance

DTNBP1 has been extensively studied for its association with schizophrenia. Several studies have reported significant associations between schizophrenia and certain haplotypes of single-nucleotide polymorphisms (SNPs) in the DTNBP1 gene . Dysbindin-1 reductions have been observed in the hippocampal formation of individuals with schizophrenia, suggesting its role in the cognitive deficits associated with the disorder .

Research and Applications

The human recombinant form of Dystrobrevin-Binding Protein 1 Isoform C is widely used in research to study its function and role in various biological processes. It is also utilized in drug development and therapeutic research, particularly in understanding and potentially treating neurological disorders such as schizophrenia .

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