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BSND recombinant protein :: Bartter Syndrome Infantile with Sensorineural Deafness Recombinant Protein

Scan QR to view Datasheet Catalog #    MBS146293 BSND recombinant protein
Unit / Price
0.002 mg  /  $140 +1 FREE 8GB USB
0.01 mg  /  $205 +1 FREE 8GB USB
0.1 mg  /  $1,220 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

Bartter Syndrome Infantile with Sensorineural Deafness (BSND), Recombinant Protein

 Also Known As   

Recombinant Human Bartter Syndrome Infantile with Sensorineural Deafness

 Product Synonym Names    BSND Human; Bartter Syndrome Infantile with Sensorineural Deafness Human Recombinant; Bartter Syndrome Infantile With Sensorineural Deafness (Barttin); Deafness Autosomal Recessive 73; DFNB73; BART; barttin
 Product Gene Name   

BSND recombinant protein

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Sequence    MGSSHHH HHH SSGLVPRGSH MGSCQC YPKI TFVPADSDFQ GILSPKAMGL LENGLAAEMK SPSPQPPYVR LWEEAAYDQS LPDFSHIQMK VMSYSEDHRS LLAPEMGQPK LGTSDGGEGG PGDVQAWMEA AVVIHKGSDE SEGERRLTQS WPGPLACPQG PAPLASFQDD LDMDSSEGSS PNASPHDREE ACSPQQEPQG CRCPLDRFQD FALIDAPTLE DEPQEGQQWE IALPNNWQRY PRTKVEEKEA SDTGGEEPEK EEEDLYYGLP DGAGDLLPDK ELGFEPDTQG
 OMIM    602522
 3D Structure    ModBase 3D Structure for Q8WZ55
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 Host    E Coli
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 Purity/Purification    Greater than 90% as determined by SDS-PAGE.
 Form/Format    The BSND solution (0.25mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.15M NaCl, 1mM DTT and 10% glycerol.
Sterile Filtered clear solution.
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 Other Notes    Small volumes of BSND recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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Related Product Information for BSND recombinant protein

   Description: BSND Human Recombinant produced in E Coli is a single, non-glycosylated polypeptide chain containing 290 amino acids (54-320) and having a molecular mass of 31.7kDa.BSND is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Introduction: BSND is a vital beta subunit for CLC chloride channels. These heteromeric channels are restricted to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. BSND gene mutations are linked with Bartter syndrome with sensorineural deafness.
 Product Categories/Family for BSND recombinant protein    RECOMBINANT & NATURAL PROTEINS; Recombinant Proteins
NCBI/Uniprot data below describe general gene information for BSND. It may not necessarily be applicable to this product.
 NCBI GI #    17017967
 NCBI GeneID    7809
 NCBI Accession #    NP_476517.1 [Other Products]
 NCBI GenBank Nucleotide #    NM_057176.2 [Other Products]
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 UniProt Primary Accession #    Q8WZ55 [Other Products]
 UniProt Secondary Accession #    Q6NT28 [Other Products]
 UniProt Related Accession #    Q8WZ55 [Other Products]
 Molecular Weight    35,197 Da
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 NCBI Official Full Name    barttin
 NCBI Official Synonym Full Names    barttin CLCNK-type chloride channel accessory beta subunit
 NCBI Official Symbol    BSND [Similar Products]
 NCBI Official Synonym Symbols   
BART; DFNB73
[Similar Products]
 NCBI Protein Information    barttin; Bartter syndrome, infantile, with sensorineural deafness (Barttin); deafness, autosomal recessive 73
 UniProt Protein Name    Barttin
 Protein Family    Barttin
 UniProt Gene Name    BSND [Similar Products]
 UniProt Synonym Gene Names    BART [Similar Products]
 UniProt Entry Name    BSND_HUMAN
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 NCBI Summary for BSND    This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
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 UniProt Comments for BSND    BSND: Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter. Defects in BSND are the cause of Bartter syndrome type 4A (BS4A); also known as infantile Bartter syndrome with sensorineural deafness. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS4A is associated with sensorineural deafness.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel

Chromosomal Location of Human Ortholog: 1p32.1

Cellular Component: protein complex; integral to plasma membrane; basolateral plasma membrane; cytoplasm; plasma membrane

Molecular Function: chloride channel activity; chloride channel regulator activity

Biological Process: transmembrane transport

Disease: Bartter Syndrome, Type 4a
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 Research Articles on BSND    1. BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Products associated with BSND recombinant proteinPathways associated with BSND recombinant protein
 Reference Product  PubMed Publications
 CLCNKB recombinant protein  >30 publications with BSND and CLCNKB
 CLCNKA recombinant protein  >19 publications with BSND and CLCNKA
 KCNJ1 recombinant protein  >9 publications with BSND and KCNJ1
 SLC12A1 recombinant protein  >8 publications with BSND and SLC12A1
 SLC12A3 recombinant protein  >2 publications with BSND and SLC12A3
 Products by Pathway  Pathway Diagram
 Ion Channel Transport Pathway antibodies  Ion Channel Transport Pathway Diagram
 Stimuli-sensing Channels Pathway antibodies  Stimuli-sensing Channels Pathway Diagram
 Transmembrane Transport Of Small Molecules Pathway antibodies  Transmembrane Transport Of Small Molecules Pathway Diagram
Diseases associated with BSND recombinant proteinOrgans/Tissues associated with BSND recombinant protein
 Disease Name  Pubmed Publications
 Kidney Diseases Antibodies  >42 publications with BSND and Kidney Diseases
 Bartter Syndrome Antibodies  >37 publications with BSND and Bartter Syndrome
 Hyperaldosteronism Antibodies  >33 publications with BSND and Hyperaldosteronism
 Deafness Antibodies  >30 publications with BSND and Deafness
 Ear Diseases Antibodies  >21 publications with BSND and Ear Diseases
 Hearing Disorders Antibodies  >20 publications with BSND and Hearing Disorders
 Hearing Loss Antibodies  >20 publications with BSND and Hearing Loss
 Hearing Loss, Sensorineural Antibodies  >12 publications with BSND and Hearing Loss, Sensorineural
 Hypokalemia Antibodies  >10 publications with BSND and Hypokalemia
 Renal Insufficiency Antibodies  >4 publications with BSND and Renal Insufficiency
 Organ/Tissue Name  Pubmed Publications
 Kidney Antibodies  >36 publications with BSND and Kidney
 Mixed Antibodies  >1 publications with BSND and Mixed
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