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CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. Additionally we are shipping Chloride Channel 5 Proteins (6) and many more products for this protein.
Showing 10 out of 55 products:
Human Polyclonal Chloride Channel 5 Primary Antibody for WB - ABIN1881207
White: On the position and value of those Lesions of the Brain which cause a rise of Temperature. in The Journal of physiology 2007
Show all 4 references for ABIN1881207
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 (show SLC9A3 Antibodies).
HNF1alpha (show HNF1A Antibodies) directly regulates the expression of ClC-5 in the renal proximal tubule
ClC-5 is unique among CLC (show CLC Antibodies) 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 (show ATP6AP1 Antibodies), 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 (show TGFB1 Antibodies) 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 (show LRP2 Antibodies) and cubilin (show CUBN Antibodies) in PTC (show PTCH1 Antibodies).
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 (show UTS2R Antibodies) 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 (show OCRL Antibodies), and its genetic background and phenotypes are common among European countries and the USA.
Case Report: computer simulation analysis of CIC (show CIC Antibodies)-5 missense mutations in Dent's disease.
These results elucidate the biophysical properties of ClC-5 and contribute to the understanding of its physiological role.
Certain misprocessing mutations in CLC-5 chloride channels alter intramolecular interactions within the full-length protein, ensuring that they do not elicit the unfolded protein response.
Dent disease-causing CLC-5 mutations have differing effects on endosomal acidification and receptor-mediated endocytosis that may not be coupled.
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