CLCN1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CLCN1 wild-type allele is located in the vicinity of 7q34 and is approximately 36 kb in length. This allele, which encodes chloride channel protein 1, is involved in voltage-dependent chloride transport in muscle cells. Mutation of the gene is associated with autosomal recessive myotonia congenita (Becker disease), autosomal dominant myotonia congenita (Thomsen disease) and a mild form of autosomal dominant myotonia, called myotonia levior.

**Synonyms:** - CLC1 - Chloride Channel 1, Skeletal Muscle Gene - Chloride Channel Protein, Skeletal Muscle Gene - Chloride Channel, Muscle Gene - Chloride Channel, Voltage-Sensitive 1 Gene - Chloride Voltage-Gated Channel 1 wt Allele