CLCN1

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).[5]

CLCN1
Identifiers
AliasesCLCN1, CLC1, chloride voltage-gated channel 1
External IDsOMIM: 118425 MGI: 88417 HomoloGene: 63 GeneCards: CLCN1
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q34Start143,316,111 bp[1]
End143,352,083 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1180

12723

Ensembl

ENSG00000188037

ENSMUSG00000029862

UniProt

P35523

Q64347

RefSeq (mRNA)

NM_000083

NM_013491
NM_001363712

RefSeq (protein)

NP_000074

NP_038519
NP_001350641

Location (UCSC)Chr 7: 143.32 – 143.35 MbChr 6: 42.29 – 42.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chloride channel protein, skeletal muscle (CLCN1) is a protein that in humans is encoded by the CLCN1 gene.[6] Mutations in this protein cause congenital myotonia.

CLCN1 is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are controlled by the flow of ions into and out of muscle cells. CLCN1 forms an ion channel that controls the flow of negatively charged chloride ions into these cells. The main function of this channel is to stabilize the cells' electrical charge, enabling muscles to contract normally.

In people with congenital myotonia due to a mutation in CLCN1, the ion channel admits too few chloride ions into the cell. This shortage of chloride ions causes prolonged muscle contractions, which are the hallmark of myotonia.

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000188037 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000029862 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: CLCN1 chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)".
  6. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ (Sep 1992). "The skeletal muscle chloride channel in dominant and recessive human myotonia". Science. 257 (5071): 797–800. doi:10.1126/science.1379744. PMID 1379744.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.