CLC-1 channel

the major skeletal muscle chloride channel in mammals; CLCN1 mutations are associated with myotonia congenita in Northern Scandinavia; RefSeq NM_000083 (human); NM_013491 (mouse); NM_013147 (rat)

Also Known As:

CIC-1 protein, human; CLC-1 protein, human; CLC-1 protein, mouse; CLC-1 protein, rat; CLCN1 protein, human; Clcn1 protein, mouse; Clcn1 protein, rat; chloride channel 1 protein, mouse; chloride channel 1 protein, rat; chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant), human; skeletal muscle chloride channel CIC-1; skeletal muscle chloride channel CIC-1, human

Networked: 10 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Carrier Proteins: 12999
    - Membrane Transport Proteins: 589
      - Ion Channels: 6731
        Chloride Channels: 1799
        CLC-1 channel: 10
  - Membrane Proteins: 10078
    - Membrane Glycoproteins: 2252
      - Ion Channels: 6731
        Chloride Channels: 1799
        CLC-1 channel: 10
    - Membrane Transport Proteins: 589
      - Ion Channels: 6731
        Chloride Channels: 1799
        CLC-1 channel: 10

Experts

1.	Altamura, Concetta: 3 articles (01/2018 - 09/2015)
2.	Imbrici, Paola: 3 articles (01/2018 - 09/2015)
3.	Desaphy, Jean-François: 2 articles (01/2018 - 09/2015)
4.	Chen, Tsung-Yu: 1 article (01/2020)
5.	Fu, Ssu-Ju: 1 article (01/2020)
6.	Hsiao, Cheng-Tsung: 1 article (01/2020)
7.	Jeng, Chung-Jiuan: 1 article (01/2020)
8.	Peng, Yi-Jheng: 1 article (01/2020)
9.	Tang, Chih-Yung: 1 article (01/2020)
10.	You, Chia-Ying: 1 article (01/2020)

Related Diseases

1.	Myotonia Congenita (Thomsen Disease) 01/01/2020 - "Mutations in the human CLCN1 gene, which encodes the ClC-1 channel, are associated with a hereditary skeletal muscle disease, myotonia congenita. " 07/01/2017 - "This analysis suggests that impaired CLC-1 channel function can cause myotonia congenita and that R47W has a protective effect on A298T in relation to channel gating. " 10/01/2016 - "Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 channel. " 09/15/2015 - "Loss-of-function mutations of the skeletal muscle ClC-1 channel cause myotonia congenita with variable phenotypes. " 09/01/2015 - "Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride ClC-1 channel, which is quite exclusively expressed in skeletal muscle. "
2.	Myotonia 01/01/2020 - "The dominant inheritance pattern of some myotonia mutations may be explained by a dominant-negative effect on ClC-1 channel gating. " 09/15/2015 - "Using patch clamp we show that F484L, located in the conducting pore, probably induces mild dominant myotonia by right-shifting the slow gating of ClC-1 channel, without exerting a dominant-negative effect on the wild-type (WT) subunit. " 01/01/2007 - "Qualitatively similar results were observed for ClC-1 channel activity in knockout mice for muscleblind-like 1 (Mbnl1(DeltaE3/DeltaE3)), a second murine model of DM1 that exhibits prominent myotonia and altered Clcn1 splicing (Kanadia et al., 2003). " 12/01/2003 - "Characterization of two new dominant ClC-1 channel mutations associated with myotonia." 02/01/2003 - "Mutations causing dominant myotonia are seen to cluster at the interface of the ClC-1 channel monomers. "
3.	Fatigue 11/01/2023 - "KATP channels contribute to force reductions by lowering sarcolemmal generation of action potentials, whilst ClC-1 channel enhances the force-depressing effects of K+, thereby triggering fatigue. "

Related Drugs and Biologics

1.	KATP Channels
2.	Peptides (Polypeptides)
3.	Chlorides
4.	Amino Acids