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  Domain Name: ClC_6_like
ClC-6-like chloride channel proteins. This CD includes ClC-6, ClC-7 and ClC-B, C, D in plants. Proteins in this family are ubiquitous in eukarotes and their functions are unclear. They are expressed in intracellular organelles membranes. This family belongs 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. ClC chloride ion channel superfamily perform a variety of functions including cellular excitability regulation, cell volume regulation, membrane potential stabilization, acidification of intracellular organelles, signal transduction, and transepithelial transport in animals.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 83
Total Disease Mutations Found: 40
This domain occurred 9 times on human genes (22 proteins).



  BARTTER SYNDROME, TYPE 3
  BARTTER SYNDROME, TYPE 4B
  DENT DISEASE 1
  EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
  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
putative H+/Cl- coupling

























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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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