CLCN5

Chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease), also known as CLCN5, is a human gene.

PBB_Summary
section_title =
summary_text = This gene encodes a member of the ClC family of chloride ion channels and ion transporters. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis.cite web | title = Entrez Gene: CLCN5 chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1184| accessdate = ]

ee also

* Chloride channel

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Igarashi T, Hayakawa H, Shiraga H, "et al." |title=Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom? |journal=Nephron |volume=69 |issue= 3 |pages= 242–7 |year= 1995 |pmid= 7753256 |doi=
*cite journal | author=Fisher SE, Black GC, Lloyd SE, "et al." |title=Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). |journal=Hum. Mol. Genet. |volume=3 |issue= 11 |pages= 2053–9 |year= 1995 |pmid= 7874126 |doi=
*cite journal | author=Scheinman SJ, Pook MA, Wooding C, "et al." |title=Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. |journal=J. Clin. Invest. |volume=91 |issue= 6 |pages= 2351–7 |year= 1993 |pmid= 8099916 |doi=
*cite journal | author=Pook MA, Wrong O, Wooding C, "et al." |title=Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. |journal=Hum. Mol. Genet. |volume=2 |issue= 12 |pages= 2129–34 |year= 1994 |pmid= 8111383 |doi=
*cite journal | author=Lloyd SE, Pearce SH, Fisher SE, "et al." |title=A common molecular basis for three inherited kidney stone diseases. |journal=Nature |volume=379 |issue= 6564 |pages= 445–9 |year= 1996 |pmid= 8559248 |doi= 10.1038/379445a0
*cite journal | author=Fisher SE, van Bakel I, Lloyd SE, "et al." |title=Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). |journal=Genomics |volume=29 |issue= 3 |pages= 598–606 |year= 1996 |pmid= 8575751 |doi=
*cite journal | author=Lloyd SE, Pearce SH, Günther W, "et al." |title=Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). |journal=J. Clin. Invest. |volume=99 |issue= 5 |pages= 967–74 |year= 1997 |pmid= 9062355 |doi=
*cite journal | author=Pirozzi G, McConnell SJ, Uveges AJ, "et al." |title=Identification of novel human WW domain-containing proteins by cloning of ligand targets. |journal=J. Biol. Chem. |volume=272 |issue= 23 |pages= 14611–6 |year= 1997 |pmid= 9169421 |doi=
*cite journal | author=Oudet C, Martin-Coignard D, Pannetier S, "et al." |title=A second family with XLRH displays the mutation S244L in the CLCN5 gene. |journal=Hum. Genet. |volume=99 |issue= 6 |pages= 781–4 |year= 1997 |pmid= 9187673 |doi=
*cite journal | author=Lloyd SE, Gunther W, Pearce SH, "et al." |title=Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. |journal=Hum. Mol. Genet. |volume=6 |issue= 8 |pages= 1233–9 |year= 1997 |pmid= 9259268 |doi=
*cite journal | author=Schurman SJ, Norden AG, Scheinman SJ |title=X-linked recessive nephrolithiasis: presentation and diagnosis in children. |journal=J. Pediatr. |volume=132 |issue= 5 |pages= 859–62 |year= 1998 |pmid= 9602200 |doi=
*cite journal | author=Günther W, Lüchow A, Cluzeaud F, "et al." |title=ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 14 |pages= 8075–80 |year= 1998 |pmid= 9653142 |doi=
*cite journal | author=Devuyst O, Christie PT, Courtoy PJ, "et al." |title=Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. |journal=Hum. Mol. Genet. |volume=8 |issue= 2 |pages= 247–57 |year= 1999 |pmid= 9931332 |doi=
*cite journal | author=Lamb FS, Clayton GH, Liu BX, "et al." |title=Expression of CLCN voltage-gated chloride channel genes in human blood vessels. |journal=J. Mol. Cell. Cardiol. |volume=31 |issue= 3 |pages= 657–66 |year= 1999 |pmid= 10198195 |doi= 10.1006/jmcc.1998.0901
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Moulin P, Igarashi T, Van der Smissen P, "et al." |title=Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients. |journal=Kidney Int. |volume=63 |issue= 4 |pages= 1285–95 |year= 2003 |pmid= 12631345 |doi= 10.1046/j.1523-1755.2003.00851.x
*cite journal | author=Wu F, Roche P, Christie PT, "et al." |title=Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship. |journal=Kidney Int. |volume=63 |issue= 4 |pages= 1426–32 |year= 2003 |pmid= 12631358 |doi= 10.1046/j.1523-1755.2003.00859.x
*cite journal | author=Carballo-Trujillo I, Garcia-Nieto V, Moya-Angeler FJ, "et al." |title=Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease. |journal=Nephrol. Dial. Transplant. |volume=18 |issue= 4 |pages= 717–23 |year= 2003 |pmid= 12637640 |doi=
*cite journal | author=Ludwig M, Waldegger S, Nuutinen M, "et al." |title=Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant. |journal=Kidney Blood Press. Res. |volume=26 |issue= 3 |pages= 176–84 |year= 2004 |pmid= 12886045 |doi= 10.1159/000071883
*cite journal | author=Hryciw DH, Wang Y, Devuyst O, "et al." |title=Cofilin interacts with ClC-5 and regulates albumin uptake in proximal tubule cell lines. |journal=J. Biol. Chem. |volume=278 |issue= 41 |pages= 40169–76 |year= 2003 |pmid= 12904289 |doi= 10.1074/jbc.M307890200

External links

*

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