Chloride channel protein 1

Definition:

Voltage-gated chloride channel. Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (Probable). The absence of conserved gating glutamate residues is typical for family members that function as channels (Probable).

References:

[1]. Eunyong Park, et al. Structure of the CLC-1 chloride channel from Homo sapiens. Elife. 2018 May 29;7:e36629. [Content Brief]

[2]. Aisling Ryan, et al. A novel alteration of muscle chloride channel gating in myotonia levior. J Physiol. 2002 Dec 1;545(2):345-54. [Content Brief]

[3]. Gianna Ulzi, et al. Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. J Neurol Sci. 2012 Jul 15;318(1-2):65-71. [Content Brief]

[4]. K Steinmeyer, et al. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J. 1994 Feb 15;13(4):737-43. [Content Brief]

[5]. Rebeca Vindas-Smith, et al. Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. Hum Mutat. 2016 Jan;37(1):74-83. [Content Brief]

[6]. C Fahlke, et al. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc Natl Acad Sci U S A. 1997 Mar 18;94(6):2729-34. [Content Brief]

[7]. C Kubisch, et al. ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet. 1998 Oct;7(11):1753-60. [Content Brief]

[8]. C Lorenz, et al. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet. 1994 Jun;3(6):941-6. [Content Brief]

[9]. Simona Portaro, et al. Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. Neuromolecular Med. 2015 Sep;17(3):285-96. [Content Brief]

[10]. Katharina Ronstedt, et al. Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. Sci Rep. 2015 Oct 27;5:15382. [Content Brief]

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