Human BSND Recombinant Protein (RPPB2912)

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SKU:
RPPB2912
Product type:
Recombinant Protein
Size:
10ug
Species:
Human
Target:
BSND
Synonyms:
Bartter Syndrome Infantile With Sensorineural Deafness (Barttin)
Synonyms:
Deafness Autosomal Recessive 73
Synonyms:
DFNB73
Synonyms:
BART
Source:
Escherichia Coli
Uniprot:
Q8WZ55
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Description

Product Name:Human BSND Recombinant Protein
Product Code:RPPB2912
Size:10µg
Species:Human
Target:BSND
Synonyms:Bartter Syndrome Infantile With Sensorineural Deafness (Barttin) , Deafness Autosomal Recessive 73, DFNB73, BART, barttin.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered clear solution.
Formulation:The BSND solution (0.25mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.15M NaCl, 1mM DTT and 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 90% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSCQCYPKI 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

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.

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.

UniProt Protein Function: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.
UniProt Protein Details:

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

Chromosomal Location of Human Ortholog: 1p32.1

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

Molecular Function:chloride channel activity; voltage-gated chloride channel activity

Disease: Bartter Syndrome, Type 4a

NCBI Summary: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 Code:Q8WZ55
NCBI GenInfo Identifier:54035724
NCBI Gene ID:7809
NCBI Accession:Q8WZ55.1
UniProt Secondary Accession:Q8WZ55,Q6NT28,
UniProt Related Accession:Q8WZ55
Molecular Weight:35,197 Da
NCBI Full Name:Barttin
NCBI Synonym Full Names:barttin CLCNK type accessory beta subunit
NCBI Official Symbol:BSND  
NCBI Official Synonym Symbols:BART; DFNB73  
NCBI Protein Information:barttin
UniProt Protein Name:Barttin
Protein Family:Barttin
UniProt Gene Name:BSND  
UniProt Entry Name:BSND_HUMAN
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