Contents

CLCN1

Protein-coding gene in the species Homo sapiens

CLCN1
Identifiers
Aliases	CLCN1, CLC1, chloride voltage-gated channel 1
External IDs	OMIM: 118425; MGI: 88417; HomoloGene: 63; GeneCards: CLCN1; OMA:CLCN1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q34 Start 143,316,111 bp[1] End 143,352,083 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 B2.1|6 20.57 cM Start 42,263,619 bp[2] End 42,292,690 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle of thigh triceps brachii muscle Skeletal muscle tissue of rectus abdominis vastus lateralis muscle biceps brachii gastrocnemius muscle Skeletal muscle tissue of biceps brachii buccal mucosa cell gonad body of tongue Top expressed in muscle of thigh extensor digitorum longus muscle plantaris muscle skeletal muscle tissue extraocular muscle quadriceps femoris muscle ankle triceps surae soleus muscle tibialis anterior muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity voltage-gated ion channel activity protein binding chloride channel activity voltage-gated chloride channel activity Cellular component integral component of membrane membrane plasma membrane integral component of plasma membrane chloride channel complex sarcolemma Biological process muscle contraction regulation of ion transmembrane transport chloride transmembrane transport ion transport ion transmembrane transport neuronal action potential propagation chloride transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 6: 42.26 – 42.29 Mb PubMed search [3] [4]
Wikidata
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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]

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.

• Chloride channel
• Thomsen disease

• GeneReviews/NCBI/NIH/UW entry on Myotonia Congenita
• CLCN1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human CLCN1 genome location and CLCN1 gene details page in the UCSC Genome Browser.

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

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