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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Clcn6  -  chloride channel 6

Mus musculus

Synonyms: AI850629, Chloride channel protein 6, Chloride transport protein 6, ClC-6, Clc6
 
 
 
 
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High impact information on Clcn6

  • We now report the identification of three additional ClC-6 isoforms that are truncated because of alternative splicing [1].
  • We have isolated, from human K562 cells, four types of ClC-6 cDNAs that encode four distinct ClC-6 protein isoforms [1].
  • Reverse-transcription-PCR analysis of ClC-6 expression in human cell lines and tissues shows that the majority (83%) of ClC-6 mRNAs consists of ClC-6a or ClC-6c messengers [1].
  • ClC-6 is a protein that structurally belongs to the family of ClC-type chloride channels [1].
 

Analytical, diagnostic and therapeutic context of Clcn6

  • Sequence analysis of a human genomic ClC-6 fragment indicates that the cDNA variability arises from alternative splicing at two different positions: the first alternative site consists of an intron flanked by two alternative donor sites and two alternative acceptor sites, the second being due to an exon that is optionally included or excluded [1].

References

  1. Alternative splicing of ClC-6 (a member of the CIC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specific. Eggermont, J., Buyse, G., Voets, T., Tytgat, J., De Smedt, H., Droogmans, G., Nilius, B. Biochem. J. (1997) [Pubmed]
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