Chloride Channel Protein 1

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Expression 5 Pathology 6 More General Terms 7 Internet Database 8 References

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

Internet Database

UniProt: [1]
Entrez gene: 1180
Kegg: [2]
OMIM: 118425
OMIM: 160800
OMIM: 255700
Prosite: [3]

References

1. UniProt [4]
2. GeneReviews [5]

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