CLCN1 wt Allele

Preferred Label : CLCN1 wt Allele;

NCIt synonyms : Chloride Channel, Muscle Gene; Chloride Channel, Voltage-Sensitive 1 Gene; CLC1; Chloride Channel Protein, Skeletal Muscle Gene; Chloride Voltage-Gated Channel 1 wt Allele; Chloride Channel 1, Skeletal Muscle Gene;

NCIt 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.;

NCIt note : Variations in the CLCN1 gene may also be associated with idiopathic generalized epilepsy. (OMIM);

NCI Metathesaurus CUI : CL1906840;

GenBank Accession Number : Z25884;

Details

Origin ID

C199472;

OMIM relation
- Chloride channel 1, skeletal muscle [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q34 [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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