Product Name
Bartter Syndrome Infantile with Sensorineural Deafness (BSND), Recombinant Protein
Full Product Name
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
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
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
3D Structure
ModBase 3D Structure for Q8WZ55
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.
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.
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 Accession #
NP_476517.1
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NCBI GenBank Nucleotide #
NM_057176.2
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UniProt Primary Accession #
Q8WZ55
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UniProt Secondary Accession #
Q6NT28[Other Products]
UniProt Related Accession #
Q8WZ55[Other Products]
Molecular Weight
35,197 Da
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
UniProt Gene Name
BSND??[Similar Products]
UniProt Synonym Gene Names
BART??[Similar Products]
UniProt Entry Name
BSND_HUMAN
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]
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
Research Articles on BSND
1. BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools.
Precautions
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Disclaimer
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