Anti-CLCN1 monoclonal antibody (DCABH-11030) Made to order

Rabbit anti-Human CLCN1 monoclonal antibody for WB, ELISA

View other CLCN1 antibodies

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human CLCN1 is used for rabbit immunization.
Conjugate
Unconjugated

Target


Alternative Names
CLCN1; chloride channel, voltage-sensitive 1; chloride channel 1, skeletal muscle; chloride channel protein 1; ClC 1; CLC1
Entrez Gene ID
UniProt ID

Product Background


Gene summary
CLCN1 (Chloride Voltage-Gated Channel 1) is a Protein Coding gene. Diseases associated with CLCN1 include myotonia congenita, recessive and myotonia congenita, dominant. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Hepatic ABC Transporters. GO annotations related to this gene include ion channel activity and adenyl nucleotide binding. An important paralog of this gene is CLCN7. 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.
Antigen Description
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). Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior). Note=The disease is caused by mutations affecting the gene represented in this entry. Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease). 0The function about CLCN1 antigen include chloride channel activity; voltage-gated chloride channel activity; voltage-gated ion channel activity.

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We offer labeled antibodies using our catalogue antibody products and a broad range of intensely fluorescent dyes and labels including HRP, biotin, ALP, Alexa Fluor® dyes, DyLight® Fluor dyes, R-phycoerythrin (R-PE), at scales from less than 100 μg up to 1 g of IgG antibody. Learn More

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References


Licchetta, L; Bisulli, F; et al. Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association?. EPILEPTIC DISORDERS 16:362-365(2014).
Raheem, O; Penttila, S; et al. New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. NEUROLOGY 79:2194-2200(2012).

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