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Browse our anti-Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) (BSND) Antibodies

Full name:
anti-Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Antibodies (BSND)
On www.antibodies-online.com are 45 Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) (BSND) Antibodies from 11 different suppliers available. Additionally we are shipping Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Proteins (6) and Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Kits (3) and many more products for this protein. A total of 60 Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) products are currently listed.
Synonyms:
BART, BSND, DFNB73

Most Popular Reactivities for anti-Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) (BSND) Antibodies

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All available anti-Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Antibodies

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Top referenced anti-Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Antibodies

  1. Human Polyclonal BSND Primary Antibody for IHC (p), WB - ABIN950606 : Riazuddin, Anwar, Fischer, Ahmed, Khan, Janssen, Zafar, Scholl, Husnain, Belyantseva, Friedman, Riazuddin, Friedman, Fahlke: Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. in American journal of human genetics 2009 (PubMed)
    Show all 5 references for ABIN950606

  2. Human Polyclonal BSND Primary Antibody for IHC (p), WB - ABIN653815 : Kathiresan, Willer, Peloso, Demissie, Musunuru, Schadt, Kaplan, Bennett, Li, Tanaka, Voight, Bonnycastle, Jackson, Crawford, Surti, Guiducci, Burtt, Parish, Clarke, Zelenika, Kubalanza, Morken, Scott, Stringham, Galan, Swift, Kuusisto, Bergman, Sundvall, : Common variants at 30 loci contribute to polygenic dyslipidemia. in Nature genetics 2008 (PubMed)
    Show all 2 references for ABIN653815

More Antibodies against Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Interaction Partners

Human Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) (BSND) interaction partners

  1. results demonstrate that the carboxyl terminus of hClC-Kb is not part of the binding site for barttin, but functionally modifies the interplay with barttin.

  2. These results demonstrate that mutations in a cluster of hydrophobic residues within transmembrane domain 1 affect barttin-CLC-K (show CLCNKB Antibodies) interaction and impair gating modification by the accessory subunit

  3. R8W and G47R, two naturally occurring barttin mutations identified in patients with Bartter syndrome type IV, reduce barttin palmitoylation and CLC-K (show CLCNKB Antibodies)/barttin channel activity.

  4. BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools.

  5. Case Report: G47R mutation decreases barttin expression, resulting CIC-K (show CLCNKB Antibodies) location being changed from the basement membrane to the cytoplasm in the tubule and might have varying effects on renal function associated with factors other than this gene.

  6. The mislocalization of CLC-K2 (show CLCNKB Antibodies) was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins.

  7. ClC-Ka (show CLCNKB Antibodies)/barttin channels are regulated by SGK1 (show SGK1 Antibodies) and SGK3 (show SGK3 Antibodies), which may thus participate in the regulation of transport in kidney and inner ear.

  8. A missense, point mutation on gene BSND exon 1, affects the function of the CLC-K (show CLCNKB Antibodies)/barttin chloride channel (show CLCA1 Antibodies) and caused Bartter syndrome with sensorineural deafness in two families from Spain.

  9. Barttin mutations is associated with antenatal Bartter syndrome with sensorineural deafness

  10. Barttin modulates trafficking and function of ClC-K1 (show CLCNKA Antibodies) and ClC-Kb (show CLCNKB Antibodies) channels

Mouse (Murine) Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) (BSND) interaction partners

  1. induction of SGK1 (show SGK1 Antibodies), CLC-K1 (show CLCNKA Antibodies) and barttin by high osmolarity and change in intracellular volume in distal renal tubular cells in vivo and in vitro

  2. Bsnd(-/-) mice thus demonstrate a novel function of Cl(-) channels in generating the endocochlear potential and reveal the mechanism leading to deafness in human Bartter syndrome IV.

Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) (BSND) Antigen Profile

Antigen 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.

Alternative names and synonyms associated with Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) (BSND)

  • Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND) antibody
  • Bartter syndrome, infantile, with sensorineural deafness (Barttin) (Bsnd) antibody
  • BART antibody
  • BSND antibody
  • DFNB73 antibody

Protein level used designations for BSND

Bartter syndrome, infantile, with sensorineural deafness (Barttin) , barttin , deafness, autosomal recessive 73

GENE ID SPECIES
424663 Gallus gallus
615670 Bos taurus
740851 Pan troglodytes
100009026 Oryctolagus cuniculus
100173753 Pongo abelii
7809 Homo sapiens
140475 Mus musculus
192675 Rattus norvegicus
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