CLCN1
Sign in to saveAlso known as CLC1, chloride voltage-gated channel 1
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).
In the Vinony graph
Vinony's link graph records 362 inbound references to CLCN1, and connects out to ion, PubMed and human chromosome 7.
It sits within the topics Chloride channels and Genes on human chromosome 7.
Vinony links it to 7 Wikipedia language editions.
Gene data
CLCN1- Name
- chloride voltage-gated channel 1
- Type
- protein-coding
- Position
- 143,316,111–143,353,744 (+)
- Aliases
- CLC1
- Ensembl
- ENSG00000188037
- RefSeq RNA
- NM_000083.3, NR_046453.2
- RefSeq protein
- NP_000074.3
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 Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
chloride voltage-gated channel 1
- Symbol
- CLCN1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 7:143,316,111-143,353,744
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 63
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1180
- genomic end
- 143049176
- genomic start
- 143316111
- chromosome
- human chromosome 7
- cytogenetic location
- 7q34
Sources (4)
via Wikidata · CC0
~2 min read
Encyclopedic overview
4 sectionsContents
- See also
- References
- Further reading
- External links
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).
Chloride channel protein, skeletal muscle (CLCN1) is a protein that in humans is encoded by the CLCN1 gene. Mutations in this protein cause congenital myotonia.
Excerpted from Wikipedia’s “CLCN1” article, available under the CC BY-SA 4.0 licence.