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 disor... See more...

Aliases for CLCN1 Gene

Aliases for CLCN1 Gene

  • Chloride Voltage-Gated Channel 1 2 3 5
  • ClC-1 2 3 4
  • CLC1 2 3 4
  • Chloride Channel Protein, Skeletal Muscle 3 4
  • Chloride Channel, Voltage-Sensitive 1 2 3
  • Chloride Channel 1, Skeletal Muscle 2 3
  • Chloride Channel Protein 1 3 4
  • Thomsen Disease, Autosomal Dominant 2
  • CLCN1 5

External Ids for CLCN1 Gene

Previous GeneCards Identifiers for CLCN1 Gene

  • GC07P141339
  • GC07P142407
  • GC07P142484
  • GC07P142530
  • GC07P142723
  • GC07P143013
  • GC07P137350

Summaries for CLCN1 Gene

Entrez Gene Summary for CLCN1 Gene

  • 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]

GeneCards Summary for CLCN1 Gene

CLCN1 (Chloride Voltage-Gated Channel 1) is a Protein Coding gene. Diseases associated with CLCN1 include Myotonia Congenita, Autosomal Recessive and Myotonia Congenita, Autosomal Dominant. Among its related pathways are Ion channel transport and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ion channel activity and adenyl nucleotide binding. An important paralog of this gene is CLCN2.

UniProtKB/Swiss-Prot Summary for CLCN1 Gene

  • Voltage-gated chloride channel (PubMed:8112288, PubMed:9122265, PubMed:12456816). Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (Probable). The absence of conserved gating glutamate residues is typical for family members that function as channels (Probable).

Gene Wiki entry for CLCN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLCN1 Gene

Genomics for CLCN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CLCN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLCN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLCN1

Top Transcription factor binding sites by QIAGEN in the CLCN1 gene promoter:
  • AREB6
  • c-Myc
  • FOXO4
  • Max1
  • MIF-1
  • MRF-2
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox5

Genomic Locations for CLCN1 Gene

Latest Assembly
chr7:143,316,111-143,352,083
(GRCh38/hg38)
Size:
35,973 bases
Orientation:
Plus strand

Previous Assembly
chr7:143,013,204-143,049,176
(GRCh37/hg19 by Entrez Gene)
Size:
35,973 bases
Orientation:
Plus strand

chr7:143,013,219-143,049,176
(GRCh37/hg19 by Ensembl)
Size:
35,958 bases
Orientation:
Plus strand

Genomic View for CLCN1 Gene

Genes around CLCN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLCN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLCN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLCN1 Gene

Proteins for CLCN1 Gene

  • Protein details for CLCN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35523-CLCN1_HUMAN
    Recommended name:
    Chloride channel protein 1
    Protein Accession:
    P35523
    Secondary Accessions:
    • A4D2H5
    • Q2M202

    Protein attributes for CLCN1 Gene

    Size:
    988 amino acids
    Molecular mass:
    108626 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for CLCN1 Gene

neXtProt entry for CLCN1 Gene

Post-translational modifications for CLCN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CLCN1 Gene

No data available for DME Specific Peptides for CLCN1 Gene

Domains & Families for CLCN1 Gene

Gene Families for CLCN1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for CLCN1 Gene

InterPro:
Blocks:
  • CBS domain
  • Chloride channel signature
  • CLC-1 chloride channel signature

Suggested Antigen Peptide Sequences for CLCN1 Gene

GenScript: Design optimal peptide antigens:
  • Chloride channel protein, skeletal muscle (CLCN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35523

UniProtKB/Swiss-Prot:

CLCN1_HUMAN :
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily.
Family:
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily.
genes like me logo Genes that share domains with CLCN1: view

Function for CLCN1 Gene

Molecular function for CLCN1 Gene

UniProtKB/Swiss-Prot Function:
Voltage-gated chloride channel (PubMed:8112288, PubMed:9122265, PubMed:12456816). Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (Probable). The absence of conserved gating glutamate residues is typical for family members that function as channels (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 chloride(in) + H(+)(out) = 2 chloride(out) + H(+)(in); Xref=Rhea:RHEA:29567, ChEBI:CHEBI:15378, ChEBI:CHEBI:17996; Evidence={ECO:0000303|PubMed:29809153};.
GENATLAS Biochemistry:
chloride voltage-gated channel 1,skeletal muscle

Phenotypes From GWAS Catalog for CLCN1 Gene

Gene Ontology (GO) - Molecular Function for CLCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005247 voltage-gated chloride channel activity IEA,IMP 22521272
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0042803 protein homodimerization activity IDA 26502825
genes like me logo Genes that share ontologies with CLCN1: view
genes like me logo Genes that share phenotypes with CLCN1: view

Human Phenotype Ontology for CLCN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN1

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CLCN1 Gene

Localization for CLCN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCN1 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLCN1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CLCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,IDA 26502825
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with CLCN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CLCN1 Gene

Pathways & Interactions for CLCN1 Gene

PathCards logo

SuperPathways for CLCN1 Gene

genes like me logo Genes that share pathways with CLCN1: view

Pathways by source for CLCN1 Gene

5 Qiagen pathways for CLCN1 Gene
  • Activation of cAMP-Dependent PKA
  • cAMP Pathway
  • Cholera Infection
  • Hepatic ABC Transporters
  • PKA Signaling

Gene Ontology (GO) - Biological Process for CLCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA,IBA 21873635
GO:0006936 muscle contraction IMP 22521272
GO:0019227 neuronal action potential propagation IEA --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with CLCN1: view

No data available for SIGNOR curated interactions for CLCN1 Gene

Drugs & Compounds for CLCN1 Gene

(11) Drugs for CLCN1 Gene - From: ApexBio, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fenofibric acid Approved Pharma Channel blocker 34
Niflumic acid Experimental Pharma Channel blocker, inhibitor Ca2+-activated Cl- channel blocker, Cyclooxygenase-2 (COX-2) inhibitor; GPR35 agonist 0
Chloride ion Experimental Pharma 0
<i>S</i>-(-)CPB Pharma Channel blocker 0
<i>S</i>-(-)CPP Pharma Channel blocker 0

(3) Additional Compounds for CLCN1 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
9-A-C
Channel blocker

(3) ApexBio Compounds for CLCN1 Gene

Compound Action Cas Number
9-AC 723-62-6
DCPIB 82749-70-0
NPPB inhibitor of chloride channel 107254-86-4
genes like me logo Genes that share compounds with CLCN1: view

Drug products for research

Transcripts for CLCN1 Gene

mRNA/cDNA for CLCN1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN1

Alternative Splicing Database (ASD) splice patterns (SP) for CLCN1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
SP1: - -
SP2:
SP3: -
SP4: - - - -

Relevant External Links for CLCN1 Gene

GeneLoc Exon Structure for
CLCN1

Expression for CLCN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLCN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLCN1 Gene

This gene is overexpressed in Muscle - Skeletal (x38.0).

Protein differential expression in normal tissues from HIPED for CLCN1 Gene

This gene is overexpressed in Lung (33.8), Liver (26.6), and Monocytes (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CLCN1 Gene



Protein tissue co-expression partners for CLCN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLCN1

SOURCE GeneReport for Unigene cluster for CLCN1 Gene:

Hs.121483

mRNA Expression by UniProt/SwissProt for CLCN1 Gene:

P35523-CLCN1_HUMAN
Tissue specificity: Predominantly expressed in skeletal muscles.

Evidence on tissue expression from TISSUES for CLCN1 Gene

  • Muscle(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLCN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • arm
  • foot
  • forearm
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CLCN1: view

Primer products for research

Orthologs for CLCN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CLCN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CLCN1 29 30
  • 99.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CLCN1 29 30
  • 87.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CLCN1 29 30
  • 87.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Clcn1 29
  • 86.06 (n)
Mouse
(Mus musculus)
Mammalia Clcn1 29 16 30
  • 85.89 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CLCN1 30
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CLCN1 29 30
  • 66.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CLCN1 30
  • 66 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii clcn1b 30
  • 65 (a)
OneToMany
clcn1a 29 30
  • 64.95 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta ClC-a 30
  • 33 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea clh-3 30 31
  • 33 (a)
ManyToMany
clh-2 30
  • 33 (a)
ManyToMany
clh-1 30
  • 31 (a)
ManyToMany
clh-4 30
  • 28 (a)
ManyToMany
Species where no ortholog for CLCN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for CLCN1 Gene

ENSEMBL:
Gene Tree for CLCN1 (if available)
TreeFam:
Gene Tree for CLCN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLCN1: view image
Alliance of Genome Resources:
Additional Orthologs for CLCN1

Paralogs for CLCN1 Gene

Paralogs for CLCN1 Gene

(5) SIMAP similar genes for CLCN1 Gene using alignment to 4 proteins:

  • CLCN1_HUMAN
  • H7C0N6_HUMAN
  • H7C1F4_HUMAN
  • Q75L28_HUMAN
genes like me logo Genes that share paralogs with CLCN1: view

Variants for CLCN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLCN1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1000597 Uncertain Significance: Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal recessive form 143,321,837(+) G/A
NM_000083.3(CLCN1):c.685G>A (p.Val229Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1001036 Uncertain Significance: Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal recessive form 143,332,495(+) G/A
NM_000083.3(CLCN1):c.1243G>A (p.Ala415Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1007520 Uncertain Significance: Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal recessive form 143,346,922(+) T/A
NM_000083.3(CLCN1):c.2376T>A (p.Asp792Glu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1008856 Uncertain Significance: Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal recessive form 143,321,789(+) G/A
NM_000083.3(CLCN1):c.637G>A (p.Val213Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1009927 Uncertain Significance: Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal recessive form 143,345,640(+) CT/GG
NM_000083.3(CLCN1):c.2050_2051delinsGG (p.Leu684Gly)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CLCN1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CLCN1 Gene

Variant ID Type Subtype PubMed ID
nsv5984 CNV deletion 18451855
nsv5985 CNV insertion 18451855
nsv831169 CNV loss 17160897
nsv949966 CNV deletion 24416366

Variation tolerance for CLCN1 Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.83; 86.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLCN1 Gene

Human Gene Mutation Database (HGMD)
CLCN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLCN1
Leiden Open Variation Database (LOVD)
CLCN1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCN1 Gene

Disorders for CLCN1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for CLCN1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
myotonia congenita, autosomal recessive
  • becker disease
myotonia congenita, autosomal dominant
  • thomsen disease; thd
myotonia congenita
  • congenital myotonia, autosomal dominant form
myotonia
endomyocardial fibrosis
  • african endomyocardial fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search CLCN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLCN1_HUMAN
  • Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior). {ECO:0000269 PubMed:12661046, ECO:0000269 PubMed:26096614, ECO:0000269 PubMed:27653901, ECO:0000269 PubMed:27666773, ECO:0000269 PubMed:7581380, ECO:0000269 PubMed:7981750, ECO:0000269 PubMed:8112288, ECO:0000269 PubMed:8533761, ECO:0000269 PubMed:8845168, ECO:0000269 PubMed:9122265, ECO:0000269 PubMed:9566422, ECO:0000269 PubMed:9736777}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease). {ECO:0000269 PubMed:10215406, ECO:0000269 PubMed:10644771, ECO:0000269 PubMed:11113225, ECO:0000269 PubMed:12661046, ECO:0000269 PubMed:1379744, ECO:0000269 PubMed:19697366, ECO:0000269 PubMed:22521272, ECO:0000269 PubMed:22641783, ECO:0000269 PubMed:26007199, ECO:0000269 PubMed:26096614, ECO:0000269 PubMed:26502825, ECO:0000269 PubMed:26510092, ECO:0000269 PubMed:7874130, ECO:0000269 PubMed:7951242, ECO:0000269 PubMed:7981681, ECO:0000269 PubMed:8533761, ECO:0000269 PubMed:8571958, ECO:0000269 PubMed:8845168, ECO:0000269 PubMed:9566422, ECO:0000269 PubMed:9736777}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CLCN1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CLCN1: view

No data available for Genatlas for CLCN1 Gene

Publications for CLCN1 Gene

  1. Decrement of compound muscle action potential is related to mutation type in myotonia congenita. (PMID: 12661046) Colding-Jørgensen E … Vissing J (Muscle & nerve 2003) 3 4 22 72
  2. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. (PMID: 8533761) Meyer-Kleine C … Koch MC (American journal of human genetics 1995) 3 4 22 72
  3. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). (PMID: 8112288) Steinmeyer K … Jentsch TJ (The EMBO journal 1994) 3 4 22 72
  4. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. (PMID: 7951242) Lorenz C … Jentsch TJ (Human molecular genetics 1994) 3 4 22 72
  5. The skeletal muscle chloride channel in dominant and recessive human myotonia. (PMID: 1379744) Koch MC … Jentsch TJ (Science (New York, N.Y.) 1992) 2 3 4 22

Products for CLCN1 Gene

Sources for CLCN1 Gene