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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CLCN1-20-RE | 20 (40 μL) | 200 μL |  |
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| CLCN1-20-OR | 20 (40 μL) | 200 μL |  |
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| CLCN1-20-GO | 20 (40 μL) | 200 μL |  |
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| CLCN1-20-GR | 20 (40 μL) | 200 μL |  |
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| CLCN1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : CLCN1
Gene Name : Chloride voltage-gated channel 1
Chromosome : CHR 7: 143,316,125-143,352,007
Locus : 7q34
Alt. Genes : FEM1B
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