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  Domain Name: ClC_1_like
ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is exclusively expressed in kidney. Similarly, mutation of ClC-K leads to nephrogenic diabetes insipidus in mice and Bartter's syndrome in human. These proteins belong to the ClC superfamily of chloride ion channels, which share the unique double-barreled architecture and voltage-dependent gating mechanism. The gating is conferred by the permeating anion itself, acting as the gating charge. This domain is found in the eukaryotic halogen ion (Cl-, Br- and I-) channel proteins, that perform a variety of functions including cell volume regulation, regulation of intracelluar chloride concentration, membrane potential stabilization, charge compensation necessary for the acidification of intracellular organelles and transepithelial chloride transport.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 70
Total Disease Mutations Found: 36
This domain occurred 9 times on human genes (22 proteins).



  BARTTER SYNDROME, TYPE 3
  BARTTER SYNDROME, TYPE 4B
  DENT DISEASE 1
  EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
  HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
  INCLUDED
  MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
  MYOTONIA CONGENITA, AUTOSOMAL DOMINANT, INCLUDED
  MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
  MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE, INCLUDED
  MYOTONIA LEVIOR
  NEPHROLITHIASIS, X-LINKED RECESSIVE
  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4
  PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
  PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS,


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
putative Cl- selectivity
putative pore gating glut





















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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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