Product Description

Recombinant Human Bartter Syndrome Infantile with Sensorineural Deafness is a rare genetic disorder characterized by a combination of Bartter syndrome and sensorineural deafness. Bartter syndrome is an autosomal recessive renal tubular disorder that affects the kidneys' ability to reabsorb salt and electrolytes, leading to imbalances in the body's fluid and electrolyte levels. This specific variant of Bartter syndrome is caused by mutations in the CLCNKB gene. Individuals with this condition typically present with symptoms such as polyuria, polydipsia, failure to thrive, and sensorineural hearing loss. Recombinant Human Bartter Syndrome Infantile with Sensorineural Deafness belongs to the Bartter syndrome family of disorders and is often diagnosed in infancy.

Current Lead Time

7-14 Days

Product Specifications

*For Research Use Only

If your product is within its expiration period, and has not performed according to expectations, fill out the sample return form. Return the unused sample frozen, with the auto generated packing slip to the address on the instructions. You will receive a full refund along with a replacement of the unused portion (inclusive of the failed test). Damages do not cover any additional costs incurred for failed experimentation. 

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

Reconstituted store at -20°C or -80°C.We recommend that single use aliquots are prepared to avoid freeze-thaw cycles.

1. Thaw the vial on ice, spin briefly
2. Prepare single-use or stock aliquots. This stage will depend on your final application so please adapt as appropriate. All our proteins are supplied carrier protein-free. If compatible with your work and you are storing at lower concentrations (<50 ug/ml) adding carrier protein is highly advised (usually 1% w/v high purity BSA or equivalent – ensure all buffers are sterile-filtered).
3. Prepare single-use aliquots whenever possible to avoid freeze-thaw cycles which can damage the proteins and reduce bioactivity. Store aliquots at -70 °C (or -20 °C)
4. We recommend sterile filtering after dilution in media or the final working solution
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Not Available