Chloride channel 1 ( Eng. Chloride channel 1, skeletal muscle, CLC-1, CLCN1 ) is a membrane protein from the superfamily of chloride channels , one of 9 members of the human chloride channels of the CLCN group. It is a voltage gated channel.
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| Symbol | ; CLC1 | ||||||||||||
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Pathology
Mutations of the CLCN1 gene cause hereditary forms of muscle diseases in humans: a recessive form of Becker's common hereditary myotonia and a dominant form of Thomsen's myotonia .
Links
- Hudson AJ, Ebers GC, Bulman DE The skeletal muscle sodium and chloride channel diseases. (English) // Brain : journal. - Oxford University Press , 1995. - Vol. 118 (Pt 2) . - P. 547-563 . - PMID 7735894 .
- Uchida S., Sasaki S., Marumo F. Chloride transport across kidney epithelia through CLC chloride channels. (Eng.) // Nippon Jinzo Gakkai shi: journal. - 1996. - Vol. 38 , no. 7 . - P. 285-289 . - PMID 8741388 .