Target：CLCN1

Gene Name：CLCN1 CLC1

Protein Name：Chloride channel protein 1 (ClC-1) (Chloride channel protein, skeletal muscle)

Human Gene Id：1180

Human Swiss Prot No：P35523

Mouse Swiss Prot No：Q64347

Rat Swiss Prot No：P35524

Immunogen：Synthesized peptide derived from part region of human protein

Specificity：CLCN1 Polyclonal Antibody detects endogenous levels of protein.

Formulation：Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000 ELISA 1:5000-20000

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Observed Band(KD)：108kD

Background：chloride voltage-gated channel 1(CLCN1) Homo sapiens 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],

Function：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

Subcellular Location：Cell membrane ; Multi-pass membrane protein .

Expression：Predominantly expressed in skeletal muscles.