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Open Access Articles- Top Results for CLCN5

CLCN5

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Identifiers
SymbolsCLCN5 ; CLC5; CLCK2; ClC-5; DENTS; NPHL1; NPHL2; XLRH; XRN; hCIC-K2
External IDsOMIM300008 MGI99486 HomoloGene73872 IUPHAR: 704 GeneCards: CLCN5 Gene
RNA expression pattern
File:PBB GE CLCN5 206704 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez118412728
EnsemblENSG00000171365ENSMUSG00000004317
UniProtP51795Q9WVD4
RefSeq (mRNA)NM_000084NM_001243762
RefSeq (protein)NP_000075NP_001230691
Location (UCSC)Chr X:
49.92 – 50.1 Mb
Chr X:
7.15 – 7.32 Mb
PubMed search[1][2]

H(+)/Cl(-) exchange transporter 5 is a protein that in humans is encoded by the CLCN5 gene.[1][2]

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's Disease and renal tubular disorders complicated by nephrolithiasis.[3] Although a member of a family of chloride channels, the CLCN5 protein allows movement of protons in the opposite direction of Cl(-), thus functioning as an antiporter. [4]

See also

References

  1. Fisher SE, Black GC, Lloyd SE, Hatchwell E, Wrong O, Thakker RV, Craig IW (Apr 1995). "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)". Hum Mol Genet 3 (11): 2053–9. PMID 7874126. 
  2. Pook MA, Wrong O, Wooding C, Norden AG, Feest TG, Thakker RV (Mar 1994). "Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22". Hum Mol Genet 2 (12): 2129–34. PMID 8111383. doi:10.1093/hmg/2.12.2129. 
  3. "Entrez Gene: CLCN5 chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)". 
  4. Picollo A, Pusch M (2005). "Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.". Nature 436 (7049): 420–3. PMID 16034421. doi:10.1038/nature03720. 

Further reading

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External links

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