chloride channel protein-1; chloride channel protein, skeletal muscle; ClC-1 (CLCN1, CLC1)

Function

• voltage-gated chloride channel
• chloride channels have several functions including regulation of cell volume, membrane potential stabilization, signal transduction & transepithelial transport
• the CLC channel family contains both chloride channels & proton-coupled anion transporters that exchange chloride or another anion for protons
• the absence of conserved gating Glu is typical for family members that function as channels

Structure

• homotetramer (probable)
• belongs to the chloride channel (TC 2.A.49) family
• contains 2 CBS domains

Compartment

membrane

Expression

predominantly expressed in skeletal muscles

Pathology

• defects in CLCN1 are the cause of
  • autosomal dominant myotonia congenita
  • autosomal recessive myotonia congenita

More general terms

• transmembrane 10 protein
• Cl- channel
• voltage-dependent anion channel

Database

• UniProt: http://www.uniprot.org/uniprot/P35523.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1180
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1180
• OMIM: https://mirror.omim.org/entry/118425
• OMIM: https://mirror.omim.org/entry/160800
• OMIM: https://mirror.omim.org/entry/255700