CLCN2

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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RefSeq (mRNA)

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RefSeq (protein)

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Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene.[1][2] Mutations of this gene have been found to cause leukoencephalopathy (PMID 23707145) and Idiopathic generalised epilepsy (OMIM: 600699).[3][4] CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.


See also

References

  1. Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR (Aug 1995). "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues". Hum Mol Genet. 4 (3): 407–413. doi:10.1093/hmg/4.3.407. PMID 7795595.
  2. "Entrez Gene: CLCN2 chloride channel 2".
  3. Haug K, Warnstedt M, Alekov AK, et al. (2003). "Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies". Nat. Genet. 33 (4): 527–532. doi:10.1038/ng1121. PMID 12612585. (Retracted)
  4. Combi R, Grioni D, Contri M, et al. (April 2009). "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy". Brain Res. Bull. 79 (2): 89–96. doi:10.1016/j.brainresbull.2009.01.008. PMID 19200853.

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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