CLCN1 Polyclonal Antibody

disease:Defects in CLCN1 are the cause of autosomal dominant myotonia congenita (MCD) [MIM:160800]; also known as Thomsen disease. MCD is characterized by skeletal muscle stiffness (delayed relaxation), due to membrane hyperexcitability. A variant form of Thomsen disease is myotonia levior that is characterized by milder symptoms, later onset and absence of muscle hypo- and hypertrophy.,disease:Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR) [MIM:255700]; also known as Becker disease.,function:Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.,miscellaneous:The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels.,similarity:Belongs to the chloride channel (TC 2.A.49) family.,similarity:Contains 2 CBS domains.,subunit:Homotetramer.,tissue specificity:Predominantly expressed in skeletal muscles.,