Chloride Channel 1, Skeletal Muscle

Alternative Names

  • CLCN1
  • Chloride Channel, Muscle
  • CLC1
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OMIM Number

118425

NCBI Gene ID

1180

Uniprot ID

P35523

Length

35,973 bases

No. of Exons

23

No. of isoforms

1

Protein Name

Chloride channel protein 1

Molecular Mass

108626 Da

Amino Acid Count

988

Genomic Location

chr7:143,316,111-143,352,083

Gene Map Locus
7q34

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000083.3:c.2786delCLebanonNC_000007.14:g.143351787delLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicMyotonia Congenita, Autosomal DominantNG_009815.1:g.40659delC; NM_000083.3:c.2786delC; NP_000074.3:p.Pro930LeufsTer18871783
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