Recombinant Human Bartter syndrome, infantile, with sensorineural deafness (Barttin), His-tagged

• Cat.No.: BSND-250H
• Product Overview: BSND, 54-320aa, Human, His tag, E.coli

Specification

• Species: Human
• Source: E.coli
• Tag: His
• Protein Length: 54-320 a.a.
• Description: BSND is 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 BSND have been associated with Bartter syndrome with sensorineural deafness. Recombinant human BSND protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.
• Form: Liquid. In 20mM Tris-HCl buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT
• Molecular Mass: 31.7 kDa (290aa) confirmed by MALDI-TOF
• AA 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
• Purity: >90% by SDS - PAGE
• Storage: Can be stored at +4C short term (1-2 weeks). For long term storage, aliquot and store at -20C or -70C. Avoid repeated freezing and thawing cycles.
• Concentration: 0.25mg/ml (determined by Bradford assay)

Gene Information

• Gene Name: BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin) [ Homo sapiens ]
• Official Symbol: BSND
• Synonyms: BSND; Bartter syndrome, infantile, with sensorineural deafness (Barttin); deafness, autosomal recessive 73 , DFNB73; barttin; BART; deafness, autosomal recessive 73; DFNB73; MGC119283; MGC119284; MGC119285
• Gene ID: 7809
• mRNA Refseq: NM_057176
• Protein Refseq: NP_476517
• MIM: 606412
• UniProt ID: Q8WZ55
• Chromosome Location: 1p32.3
• Function: contributes_to chloride channel activity; chloride channel regulator activity