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CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. Zusätzlich bieten wir Ihnen Chloride Channel 5 Antikörper (63) und Chloride Channel 5 Proteine (6) und viele weitere Produktgruppen zu diesem Protein an.
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 (zeige SLC9A3 ELISA Kits).
HNF1alpha (zeige HNF1A ELISA Kits) directly regulates the expression of ClC-5 in the renal proximal tubule
ClC-5 is unique among CLC (zeige CLC ELISA Kits) 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 (zeige ATP6AP1 ELISA Kits), 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 (zeige TGFB1 ELISA Kits) 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 (zeige LRP2 ELISA Kits) and cubilin (zeige CUBN ELISA Kits) in PTC (zeige PTCH1 ELISA Kits).
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.
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 (zeige UTS2R ELISA Kits) 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
Dent disease is caused by mutations in at least two genes, i.e. CLCN5 and OCRL1, and its genetic background and phenotypes are common among European countries and the USA.
Case Report: computer simulation analysis of CIC (zeige CIC ELISA Kits)-5 missense mutations in Dent's disease.
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