BSND Human

Bartter Syndrome Infantile with Sensorineural Deafness Human Recombinant
Cat. No.
BT28734
Source
Escherichia Coli.
Synonyms
Bartter Syndrome Infantile With Sensorineural Deafness (Barttin) , Deafness Autosomal Recessive 73, DFNB73, BART, barttin.
Appearance
Sterile Filtered clear solution.
Purity
Greater than 90% as determined by SDS-PAGE.
Usage

THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.

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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.

Product Specs

Introduction
Bartter syndrome with sensorineural deafness (BSND) is a crucial beta subunit for CLC chloride channels. These heteromeric channels are found exclusively in the basolateral membranes of renal tubules and potassium-secreting epithelia of the inner ear. Mutations in the BSND gene are associated with Bartter syndrome, a condition characterized by salt wasting, and sensorineural deafness.
Description
Recombinant human BSND, expressed in E. coli, is a single, non-glycosylated polypeptide chain consisting of 290 amino acids (residues 54-320) with a molecular weight of 31.7 kDa. This protein is fused to a 23 amino acid His-tag at the N-terminus and purified using proprietary chromatographic techniques.
Physical Appearance
Clear, sterile-filtered solution.
Formulation
The BSND solution is provided at a concentration of 0.25 mg/ml in a buffer containing 20 mM Tris-HCl (pH 8.0), 0.15 M NaCl, 1 mM DTT, and 10% glycerol.
Stability
For short-term storage (2-4 weeks), the product should be stored at 4°C. For extended storage, it is recommended to freeze the product at -20°C. Adding a carrier protein (0.1% HSA or BSA) is advisable for long-term storage. Avoid repeated freeze-thaw cycles.
Purity
Purity greater than 90% as determined by SDS-PAGE analysis.
Synonyms
Bartter Syndrome Infantile With Sensorineural Deafness (Barttin) , Deafness Autosomal Recessive 73, DFNB73, BART, barttin.
Source
Escherichia Coli.
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

Product Science Overview

Introduction

Bartter Syndrome is a group of rare inherited disorders that affect the kidneys’ ability to reabsorb sodium. Among its various types, Bartter Syndrome with Sensorineural Deafness, also known as Bartter Syndrome Type IV, is particularly notable due to its association with hearing loss. This article delves into the background, genetic basis, clinical features, and current research on this condition.

Genetic Basis

Bartter Syndrome Type IV is primarily caused by mutations in the BSND gene, which encodes the protein Barttin . Barttin is essential for the proper functioning of chloride channels in the kidneys and inner ear. These channels are crucial for maintaining electrolyte balance and normal hearing. Mutations in the BSND gene disrupt these channels, leading to the characteristic symptoms of the syndrome .

Clinical Features

Patients with Bartter Syndrome Type IV typically present with a range of symptoms, including:

  • Maternal Polyhydramnios: Excessive amniotic fluid during pregnancy due to fetal polyuria .
  • Premature Delivery: Often resulting from polyhydramnios .
  • Salt Loss and Polyuria: Excessive loss of salt and urine production .
  • Sensorineural Deafness: Bilateral hearing loss due to the dysfunction of chloride channels in the inner ear .
  • Metabolic Alkalosis: A condition characterized by hypokalemia (low potassium levels) and hypochloremia (low chloride levels) .
  • Increased Plasma Renin and Aldosterone Levels: Indicative of the body’s attempt to compensate for electrolyte imbalances .
  • Variable Urinary Calcium Excretion: Ranging from low to normal, with nephrocalcinosis typically absent .
Diagnosis

Diagnosis of Bartter Syndrome Type IV involves a combination of clinical evaluation and laboratory tests. Key diagnostic methods include:

  • Blood Gas Analysis: To detect metabolic alkalosis .
  • Plasma and Urine Electrolytes: To measure levels of sodium, potassium, chloride, bicarbonate, magnesium, and calcium .
  • Renin and Aldosterone Levels: To assess the body’s hormonal response to electrolyte imbalances .
  • Objective Hearing Assessment: To identify sensorineural hearing loss .
Current Research and Treatment

Research on Bartter Syndrome Type IV is ongoing, with a focus on understanding the genetic mutations and developing targeted therapies. Current treatment strategies aim to manage symptoms and improve quality of life. These include:

  • Electrolyte Supplementation: To correct imbalances and prevent complications .
  • Hearing Aids or Cochlear Implants: To address sensorineural deafness .
  • Medications: Such as nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce prostaglandin levels and improve renal function .

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