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  Domain Name: Voltage_CLC
Voltage gated chloride channel. This family of ion channels contains 10 or 12 transmembrane helices. Each protein forms a single pore. It has been shown that some members of this family form homodimers. In terms of primary structure, they are unrelated to known cation channels or other types of anion channels. Three ClC subfamilies are found in animals. ClC-1 is involved in setting and restoring the resting membrane potential of skeletal muscle, while other channels play important parts in solute concentration mechanisms in the kidney. These proteins contain two pfam00571 domains.
No pairwise interactions found for the domain Voltage_CLC

Total Mutations Found: 54
Total Disease Mutations Found: 33
This domain occurred 9 times on human genes (20 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:  


No Conserved Features/Sites Found for Voltage_CLC


























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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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