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Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) (BSND) ELISA Kits

BSND encodes an essential beta subunit for CLC chloride channels. Additionally we are shipping Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Antibodies (45) and Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Proteins (6) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
BSND 7809 Q8WZ55
BSND 140475 Q8VIM4
BSND 192675 Q8R2H3
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Top Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) ELISA Kits at antibodies-online.com

Showing 4 out of 4 products:

Catalog No. Reactivity Sensitivity Range Quantity Supplier Delivery Price Details
Mouse
96 Tests Log in to see 11 to 13 Days
$875.60
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Rat
96 Tests Log in to see 11 to 13 Days
$875.60
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Human
96 Tests Log in to see 11 to 13 Days
$875.60
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Chicken
96 Tests Log in to see 16 to 21 Days
$999.43
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More ELISA Kits for 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 ELISA Kits) 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 ELISA Kits)/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 ELISA Kits) 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 ELISA Kits) was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins.

  7. ClC-Ka (show CLCNKB ELISA Kits)/barttin channels are regulated by SGK1 (show SGK1 ELISA Kits) and SGK3 (show SGK3 ELISA Kits), 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 ELISA Kits)/barttin chloride channel (show CLCA1 ELISA Kits) 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 ELISA Kits) and ClC-Kb (show CLCNKB ELISA Kits) channels

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

  1. induction of SGK1 (show SGK1 ELISA Kits), CLC-K1 (show CLCNKA ELISA Kits) 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.

Gene names and symbols associated with 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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