Full Product Name
BSND (Barttin, Bartter Syndrome, Infantile, with Sensorineural Deafness, BART, DFNB73, MGC119283, MGC119284, MGC119285)
Product Synonym Names
Anti -BSND (Barttin, Bartter Syndrome, Infantile, with Sensorineural Deafness, BART, DFNB73, MGC119283, MGC119284, MGC119285)
Product Gene Name
anti-BSND antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Immunogen Sequence
MADEKTFRIG FIVLGLFLLA LGTFLMSHDR PQVYGTFYAM GSVMVIGGII WSMCQCYPKI 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
Chromosome Location
Chromosome: 1; NC_000001.10 (55464617..55474465). Location: 1p32.1
3D Structure
ModBase 3D Structure for Q8WZ55
Specificity
Recognizes human BSND.
Purity/Purification
Serum
Serum
Form/Format
Supplied as a liquid.
Immunogen
Full length human BSND, aa1-320 (NP_476517.1).
Preparation and Storage
May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Other Notes
Small volumes of anti-BSND antibody 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
anti-BSND antibody
BSND 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.
Product Categories/Family for anti-BSND antibody
Antibodies; Abs to Disease Markers
Applications Tested/Suitable for anti-BSND antibody
Western Blot (WB), Immunoprecipitation (IP)
Application Notes for anti-BSND antibody
Suitable for use in Immunoprecipitation and Western Blot.
NCBI/Uniprot data below describe general gene information for BSND. It may not necessarily be applicable to this product.
NCBI Accession #
NP_476517.1
[Other Products]
NCBI GenBank Nucleotide #
NM_057176.2
[Other Products]
UniProt Primary Accession #
Q8WZ55
[Other Products]
UniProt Secondary Accession #
Q6NT28[Other Products]
UniProt Related Accession #
Q8WZ55[Other Products]
Molecular Weight
35,197 Da[Similar Products]
NCBI Official Full Name
barttin
NCBI Official Synonym Full Names
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
NCBI Official Symbol
BSND??[Similar Products]
NCBI Official Synonym Symbols
BART; DFNB73
??[Similar Products]
NCBI Protein Information
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
Function: 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. Ref.3 Ref.4
Subunit structure: Interacts with CLCNK channels. Forms heteromers with CLCNKA in the thin ascending limb of Henle and with CLCNKB in the thick ascending limb and more distal segments
By similarity. Ref.3 Ref.4
Subcellular location: Cell membrane; Multi-pass membrane protein
By similarity. Cytoplasm
By similarity. Note: A significant amount also observed intracellularly. Staining in membranes of the renal tubule and of potassium-secreting epithelia of the inner ear is basolateral
By similarity. Ref.3 Ref.4
Tissue specificity: Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear. Ref.1
Involvement in disease: Bartter syndrome 4A (BS4A) [MIM:602522]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4 is associated with sensorineural deafness.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.4 Ref.5 Ref.6
Sequence caution: The sequence BC069510 differs from that shown. Reason: Frameshift at several positions.
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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