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structure of a bovine CLC (显示 CLCF1 ELISA试剂盒) channel (CLC-K (显示 CLCNKB ELISA试剂盒)) using cryo-electron microscopy
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.
These results demonstrate that mutations in a cluster of hydrophobic residues within transmembrane domain 1 affect barttin-CLC-K (显示 CLCNKB ELISA试剂盒) interaction and impair gating modification by the accessory subunit
R8W and G47R, two naturally occurring barttin mutations identified in patients with Bartter syndrome type IV, reduce barttin palmitoylation and CLC-K (显示 CLCNKB ELISA试剂盒)/barttin channel activity.
BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools.
Case Report: G47R mutation decreases barttin expression, resulting CIC-K (显示 CLCNKB ELISA试剂盒) 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.
The mislocalization of CLC-K2 (显示 CLCNKB ELISA试剂盒) was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins.
ClC-Ka (显示 CLCNKB ELISA试剂盒)/barttin channels are regulated by SGK1 (显示 SGK1 ELISA试剂盒) and SGK3 (显示 SGK3 ELISA试剂盒), which may thus participate in the regulation of transport in kidney and inner ear.
A missense, point mutation on gene BSND exon 1, affects the function of the CLC-K (显示 CLCNKB ELISA试剂盒)/barttin chloride channel (显示 CLCA1 ELISA试剂盒) and caused Bartter syndrome with sensorineural deafness in two families from Spain.
Barttin mutations is associated with antenatal Bartter syndrome with sensorineural deafness
Barttin modulates trafficking and function of ClC-K1 (显示 CLCNKA ELISA试剂盒) and ClC-Kb (显示 CLCNKB ELISA试剂盒) channels
induction of SGK1 (显示 SGK1 ELISA试剂盒), CLC-K1 (显示 CLCNKA ELISA试剂盒) and barttin by high osmolarity and change in intracellular volume in distal renal tubular cells in vivo and in vitro
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.
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.
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
, deafness, autosomal recessive 73