Chloride Channel Protein 1 (CLC1) ELISA Kit for Chicken

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

CLCN1: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. Defects in CLCN1 are the cause of Thomsen disease (THD); also known as autosomal dominant myotonia congenita (MCD). THD 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. Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR); also known as Becker disease. Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily.

Protein type: Transporter, ion channel; Channel, chloride; Membrane protein, integral; Transporter; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 7q35

Cellular Component: integral to plasma membrane; plasma membrane; sarcolemma

Molecular Function: chloride channel activity; voltage-gated chloride channel activity

Biological Process: muscle contraction; transport; action potential propagation; transmembrane transport

Disease: Myotonia Congenita, Autosomal Recessive; Myotonia Congenita, Autosomal Dominant