CLCN1 chloride voltage-gated channel 1

Gene ID: 1180, updated on 2-Nov-2024
Gene type: protein coding
Also known as: CLC1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital myotonia, autosomal dominant form MedGen: C2936781OMIM: 160800GeneReviews: Myotonia Congenita	See labs
Congenital myotonia, autosomal recessive form MedGen: C0751360OMIM: 255700GeneReviews: Myotonia Congenita	See labs

Genomic context

Location:: 7q34

Sequence:: Chromosome: 7; NC_000007.14 (143316111..143352083)

Total number of exons:: 23

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CLCN1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

Chloride channel 1, skeletal muscle (CLCN1) @ LOVD
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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