CLCN5

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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. doi:10.1093/hmg/2.12.2129. PMID 8111383.
  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. doi:10.1038/nature03720. PMID 16034421.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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