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Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Proteins (BSND)

BSND encodes an essential beta subunit for CLC chloride channels. Additionally we are shipping Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Antibodies (42) and Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) Kits (4) and many more products for this protein.

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

Showing 6 out of 6 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
Insect Cells Human rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Log in to see 49 to 54 Days
$6,041.49
Details
Insect Cells Mouse rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Log in to see 49 to 54 Days
$4,244.78
Details
HOST_Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
HOST_Wheat germ Human GST tag 10 μg Log in to see 9 Days
$405.71
Details
HOST_Escherichia coli (E. coli) Human Un-conjugated   20 μg Log in to see 3 to 4 Days
$388.93
Details

BSND Proteins by Origin and Source

Origin Expressed in Conjugate
Human , ,
, ,
Mouse (Murine) ,
,

More Proteins for Bartter Syndrome, Infantile, with Sensorineural Deafness (Barttin) (BSND) 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 Proteins) 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 Proteins)/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 Proteins) 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 Proteins) was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins.

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

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

  1. induction of SGK1 (show SGK1 Proteins), CLC-K1 (show CLCNKA Proteins) 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) Protein Profile

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

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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