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CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. 再加上，我们可以发Chloride Channel 5 抗体 (64)和数多这个蛋白质的别的产品。
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Human Chloride Channel 5 Protein expressed in Wheat germ - ABIN1349570
Hryciw, Jenkin, Simcocks, Grinfeld, McAinch, Poronnik: The interaction between megalin and ClC-5 is scaffolded by the Na?-H? exchanger regulatory factor 2 (NHERF2) in proximal tubule cells. in The international journal of biochemistry & cell biology 2012
analysis of extracellular determinants of anion discrimination of the Cl-/H+ antiporter protein CLC-5
This study demonistrated that Clcn5 gene expression in mouse dorsal raphe nucleus
ClC-5 plays an essential role in exocytosis of NHE3 (显示 SLC9A3 蛋白).
HNF1alpha (显示 HNF1A 蛋白) directly regulates the expression of ClC-5 in the renal proximal tubule
ClC-5 is unique among CLC (显示 CLC 蛋白) proteins in being crucial for proximal tubular endocytosis and the PY-motif-dependent ubiquitylation of ClC-5 is dispensable for this rol
findings show that endosomal chloride concentration, which is raised by ClC-5 in exchange for protons accumulated by H+-ATPase (显示 ATP6AP1 蛋白), may play a role in endocytosis
Our studies demonstrate a role for CLC-5 in the immunopathogenesis of ulcerative colitis
ClC-5 regulates dentin development through TGF-beta1 (显示 TGFB1 蛋白) pathway
Disruption of CLC-5 expression causes abnormal calcium crystal agglomeration on the surface of kidney collecting duct cells.
hypercalciuria in the ClC-5 KO mice on low and high calcium diets is of bone and renal origin and is not caused by increased intestinal calcium absorption
Impaired protein endocytosis caused by invalidation of ClC-5 primarily reflects a trafficking defect of megalin (显示 LRP2 蛋白) and cubilin (显示 CUBN 蛋白) in PTC (显示 PTCH1 蛋白).
We demonstrated that most Polish patients with DD carry CLCN5 mutations, and they usually present with proteinuria and hypercalciuria.
Novel CLCN5 (c.1205G>A, p.W402*) and FGF23 (显示 FGF23 蛋白) (c.526C>G, p.R176G) mutations were found in two patients from the remaining two families
Expression of ClC-5 carrying Dent's disease-associated mutations in HEK293 cells had varying effects: (1) no detectable expression of mutant protein; (2) retention of a truncated protein in the endoplasmic reticulum; or (3) diminished protein expression with normal distribution in early endosomes.
These data suggest that ClC-5 enhances the cytotoxic action of Clostridium difficile toxins TcdA and TcdB by accelerating the acidification and maturation of vesicles of the early and early-to-late endosomal system.
A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1 (显示 OCRL 蛋白).
we carefully investigated the functional effects of four CLC-5 mutations, including three missense mutations (S244L, R345W, T657S) and one nonsense mutation (Q629X)
A novel mutation in the CLCN5 gene was identified in our patient with Dent's disease.
structural complexity of the CLCN5 5'UTR region
ATP induces conformational changes in the carboxyl-terminal region of ClC-5.
study described a single Chinese family with Dent disease, and findings suggest that a novel frameshift mutation (c. 246delG) in exon 5 of the CLCN5 gene was responsible for Dent disease in this case
This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene.
chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)
, chloride channel protein 5
, chloride channel 5
, H(+)/Cl(-) exchange transporter 5-like
, Chloride channel protein 5
, H(+)/Cl(-) exchange transporter 5
, chloride transporter ClC-5
, voltage-gated chloride ion channel CLCN5
, chloride channel CLC-5
, chloride channel CLCN5
, chloride channel Clc-5