Details for: CLCN1

Gene ID: 1180

Symbol: CLCN1

Ensembl ID: ENSG00000188037

Description: chloride voltage-gated channel 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 6.8206
    Cell Significance Index: -1.7300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.8748
    Cell Significance Index: 114.9400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 1.4842
    Cell Significance Index: -1.8300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.2661
    Cell Significance Index: 40.5500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6753
    Cell Significance Index: 14.6300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5371
    Cell Significance Index: 102.2100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.4918
    Cell Significance Index: 12.0000
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.4459
    Cell Significance Index: 2.9600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4456
    Cell Significance Index: 44.0800
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 0.4094
    Cell Significance Index: 1.0800
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.3795
    Cell Significance Index: 4.4900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3381
    Cell Significance Index: 7.2000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3210
    Cell Significance Index: 289.8000
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.3031
    Cell Significance Index: 4.8900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2261
    Cell Significance Index: 36.7800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2148
    Cell Significance Index: 23.3700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2019
    Cell Significance Index: 5.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1908
    Cell Significance Index: 9.9100
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.1569
    Cell Significance Index: 2.0100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1333
    Cell Significance Index: 8.0000
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.1206
    Cell Significance Index: 1.6900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1088
    Cell Significance Index: 7.5300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1070
    Cell Significance Index: 1.4600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1053
    Cell Significance Index: 1.6700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0893
    Cell Significance Index: 1.5300
  • Cell Name: secondary lymphoid organ macrophage (CL0000867)
    Fold Change: 0.0790
    Cell Significance Index: 0.5800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0782
    Cell Significance Index: 1.9500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.0684
    Cell Significance Index: 2.5100
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.0553
    Cell Significance Index: 0.7000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0378
    Cell Significance Index: 6.8100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.0274
    Cell Significance Index: 0.4400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.0194
    Cell Significance Index: 0.2900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0145
    Cell Significance Index: 2.9100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0117
    Cell Significance Index: 0.5300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0086
    Cell Significance Index: 0.2400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0077
    Cell Significance Index: 0.1600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0070
    Cell Significance Index: 0.1000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0043
    Cell Significance Index: 0.0400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0025
    Cell Significance Index: 0.3400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0023
    Cell Significance Index: 0.8300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0019
    Cell Significance Index: 0.2300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0017
    Cell Significance Index: 0.0600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0009
    Cell Significance Index: 0.0200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0007
    Cell Significance Index: 0.1300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0001
    Cell Significance Index: -0.1600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0004
    Cell Significance Index: -0.6200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0005
    Cell Significance Index: -0.8300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0009
    Cell Significance Index: -1.2600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0014
    Cell Significance Index: -0.0200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0019
    Cell Significance Index: -1.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0023
    Cell Significance Index: -1.6900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0026
    Cell Significance Index: -1.1900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0026
    Cell Significance Index: -1.9900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0027
    Cell Significance Index: -1.5200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0030
    Cell Significance Index: -1.6400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0034
    Cell Significance Index: -0.9700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0036
    Cell Significance Index: -0.5300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0045
    Cell Significance Index: -0.1900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0047
    Cell Significance Index: -0.5500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0048
    Cell Significance Index: -0.1200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0049
    Cell Significance Index: -0.2300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0053
    Cell Significance Index: -0.9100
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.0055
    Cell Significance Index: -0.0700
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0076
    Cell Significance Index: -0.0900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0089
    Cell Significance Index: -0.6600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0094
    Cell Significance Index: -1.9800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0123
    Cell Significance Index: -1.2600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0125
    Cell Significance Index: -1.6200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0143
    Cell Significance Index: -1.6400
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0155
    Cell Significance Index: -0.2000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0156
    Cell Significance Index: -1.8400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0161
    Cell Significance Index: -1.6800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0178
    Cell Significance Index: -1.2000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0181
    Cell Significance Index: -1.1100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0196
    Cell Significance Index: -0.4300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0206
    Cell Significance Index: -0.5200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0250
    Cell Significance Index: -1.9200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0262
    Cell Significance Index: -0.8300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0290
    Cell Significance Index: -0.7900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0306
    Cell Significance Index: -1.4400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0310
    Cell Significance Index: -2.0000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0318
    Cell Significance Index: -0.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0331
    Cell Significance Index: -1.8600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0335
    Cell Significance Index: -1.7500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0336
    Cell Significance Index: -1.1000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0339
    Cell Significance Index: -1.0800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0355
    Cell Significance Index: -1.5700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0363
    Cell Significance Index: -1.2700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.0372
    Cell Significance Index: -0.5400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0385
    Cell Significance Index: -0.5800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0396
    Cell Significance Index: -1.0600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0407
    Cell Significance Index: -1.5400
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.0431
    Cell Significance Index: -0.5200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0433
    Cell Significance Index: -0.9200
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: -0.0445
    Cell Significance Index: -0.3200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0481
    Cell Significance Index: -1.2000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0482
    Cell Significance Index: -0.9800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0485
    Cell Significance Index: -0.4600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0508
    Cell Significance Index: -1.5000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Voltage-gated chloride channel**: CLCN1 is a voltage-gated chloride channel, meaning it opens in response to changes in membrane potential, allowing chloride ions to flow across the cell membrane. 2. **Regulation of cellular homeostasis**: CLCN1 helps maintain cellular balance by controlling chloride ion levels, which is essential for various cellular functions, including muscle contraction, neuronal signaling, and epithelial transport. 3. **Broad tissue distribution**: CLCN1 is expressed in multiple cell types, including neurons, muscle cells, and epithelial cells, underscoring its importance in various organ systems. 4. **Evolutionary conservation**: CLCN1 is conserved across species, suggesting its fundamental role in maintaining cellular homeostasis and neurological function. **Pathways and Functions:** 1. **Chloride channel complex**: CLCN1 is part of the chloride channel complex, which regulates chloride ion flux across cell membranes. 2. **Muscle contraction**: CLCN1 plays a role in muscle contraction by controlling chloride ion levels, which influences muscle relaxation and contraction. 3. **Neuronal action potential propagation**: CLCN1 is involved in neuronal signaling by regulating chloride ion flux, which affects action potential propagation and synaptic transmission. 4. **Epithelial transport**: CLCN1 helps regulate chloride ion transport across epithelial cells, influencing fluid and electrolyte balance. 5. **Stimuli-sensing channels**: CLCN1 may function as a stimuli-sensing channel, responding to changes in membrane potential and regulating cellular responses. **Clinical Significance:** 1. **Neurological disorders**: Mutations in the CLCN1 gene have been associated with neurological disorders, such as epilepsy, myoclonic seizures, and familial hemiplegic migraine. 2. **Muscular dystrophy**: CLCN1 mutations have been linked to muscular dystrophy, highlighting the importance of chloride ion regulation in muscle function. 3. **Epithelial dysfunction**: CLCN1 dysfunction has been implicated in epithelial disorders, such as cystic fibrosis, which affects chloride ion transport across epithelial cells. 4. **Therapeutic potential**: Targeting CLCN1 may offer therapeutic opportunities for treating neurological and muscular disorders associated with chloride ion dysregulation. In conclusion, the CLCN1 gene plays a critical role in regulating cellular homeostasis and neurological function. Its widespread expression and involvement in various cellular processes highlight its importance in maintaining cellular balance. Further research on CLCN1 may uncover new therapeutic targets for treating neurological and muscular disorders associated with chloride ion dysregulation.

Genular Protein ID: 113988378

Symbol: CLCN1_HUMAN

Name: Chloride channel protein 1

UniProtKB Accession Codes:

P35523 A4D2H5 Q2M202

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 8 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 29 EMDB 7 Ensembl 1 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 5 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8112288

Title: Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).

PubMed ID: 8112288

DOI: 10.1002/j.1460-2075.1994.tb06315.x

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1379744

Title: The skeletal muscle chloride channel in dominant and recessive human myotonia.

PubMed ID: 1379744

DOI: 10.1126/science.1379744

PubMed ID: 7981750

Title: Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

PubMed ID: 7981750

DOI: 10.1038/ng0493-305

PubMed ID: 8130334

Title: Low single channel conductance of the major skeletal muscle chloride channel, ClC-1.

PubMed ID: 8130334

DOI: 10.1016/s0006-3495(94)80753-2

PubMed ID: 9122265

Title: A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.

PubMed ID: 9122265

DOI: 10.1073/pnas.94.6.2729

PubMed ID: 9565403

Title: Permeation and block of the skeletal muscle chloride channel, ClC-1, by foreign anions.

PubMed ID: 9565403

DOI: 10.1085/jgp.111.5.653

PubMed ID: 10051520

Title: The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia.

PubMed ID: 10051520

DOI: 10.1085/jgp.113.3.457

PubMed ID: 10962018

Title: Fast and slow gating relaxations in the muscle chloride channel CLC-1.

PubMed ID: 10962018

DOI: 10.1085/jgp.116.3.433

PubMed ID: 12456816

Title: A novel alteration of muscle chloride channel gating in myotonia levior.

PubMed ID: 12456816

DOI: 10.1113/jphysiol.2002.027037

PubMed ID: 16027167

Title: Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels.

PubMed ID: 16027167

DOI: 10.1074/jbc.m502890200

PubMed ID: 37892996

Title: ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.

PubMed ID: 37892996

DOI: 10.3390/biomedicines11102622

PubMed ID: 29809153

Title: Structure of the CLC-1 chloride channel from Homo sapiens.

PubMed ID: 29809153

DOI: 10.7554/elife.36629

PubMed ID: 31022181

Title: Structure of the human ClC-1 chloride channel.

PubMed ID: 31022181

DOI: 10.1371/journal.pbio.3000218

PubMed ID: 7951242

Title: Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia.

PubMed ID: 7951242

DOI: 10.1093/hmg/3.6.941

PubMed ID: 7981681

Title: Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.

PubMed ID: 7981681

DOI: 10.1093/hmg/3.7.1123

PubMed ID: 7874130

Title: Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.

PubMed ID: 7874130

PubMed ID: 8533761

Title: Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

PubMed ID: 8533761

PubMed ID: 7581380

Title: Myotonia levior is a chloride channel disorder.

PubMed ID: 7581380

DOI: 10.1093/hmg/4.8.1397

PubMed ID: 8845168

Title: Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.

PubMed ID: 8845168

DOI: 10.1016/0896-6273(95)90023-3

PubMed ID: 8571958

Title: Novel muscle chloride channel mutations and their effects on heterozygous carriers.

PubMed ID: 8571958

PubMed ID: 9736777

Title: ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

PubMed ID: 9736777

DOI: 10.1093/hmg/7.11.1753

PubMed ID: 10215406

Title: Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita.

PubMed ID: 10215406

DOI: 10.1002/(sici)1098-1004(1998)11:4<331::aid-humu12>3.0.co;2-3

PubMed ID: 9566422

Title: Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.

PubMed ID: 9566422

DOI: 10.1212/wnl.50.4.1176

PubMed ID: 10644771

Title: Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation.

PubMed ID: 10644771

DOI: 10.1074/jbc.275.4.2999

PubMed ID: 11113225

Title: A 'dystrophic' variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.

PubMed ID: 11113225

DOI: 10.1212/wnl.55.11.1697

PubMed ID: 12661046

Title: Decrement of compound muscle action potential is related to mutation type in myotonia congenita.

PubMed ID: 12661046

DOI: 10.1002/mus.10347

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 19697366

Title: Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.

PubMed ID: 19697366

DOI: 10.1002/mus.21525

PubMed ID: 22521272

Title: Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.

PubMed ID: 22521272

DOI: 10.1016/j.jns.2012.03.024

PubMed ID: 22641783

Title: Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.

PubMed ID: 22641783

DOI: 10.1113/jphysiol.2012.232785

PubMed ID: 26096614

Title: ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

PubMed ID: 26096614

DOI: 10.1113/jp270358

PubMed ID: 26007199

Title: Clinical, molecular, and functional characterization of CLCN1 mutations in three families with recessive myotonia congenita.

PubMed ID: 26007199

DOI: 10.1007/s12017-015-8356-8

PubMed ID: 26502825

Title: Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.

PubMed ID: 26502825

DOI: 10.1038/srep15382

PubMed ID: 26510092

Title: Identification and functional characterization of CLCN1 mutations found in nondystrophic myotonia patients.

PubMed ID: 26510092

DOI: 10.1002/humu.22916

PubMed ID: 27653901

Title: A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

PubMed ID: 27653901

DOI: 10.1016/j.jns.2016.08.030

PubMed ID: 27666773

Title: Thomsen disease with ptosis and abnormal MR findings.

PubMed ID: 27666773

DOI: 10.1016/j.nmd.2016.08.016

Sequence Information:

  • Length: 988
  • Mass: 108626
  • Checksum: CA838BCD2AF3CA68
  • Sequence:
    • MEQSRSQQRG GEQSWWGSDP QYQYMPFEHC TSYGLPSENG GLQHRLRKDA GPRHNVHPTQ 
IYGHHKEQFS DREQDIGMPK KTGSSSTVDS KDEDHYSKCQ DCIHRLGQVV RRKLGEDGIF 
LVLLGLLMAL VSWSMDYVSA KSLQAYKWSY AQMQPSLPLQ FLVWVTFPLV LILFSALFCH 
LISPQAVGSG IPEMKTILRG VVLKEYLTMK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS 
ICAAVLSKFM SVFCGVYEQP YYYSDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR 
NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA FAAIGICCGL 
LGAVFVYLHR QVMLGVRKHK ALSQFLAKHR LLYPGIVTFV IASFTFPPGM GQFMAGELMP 
REAISTLFDN NTWVKHAGDP ESLGQSAVWI HPRVNVVIII FLFFVMKFWM SIVATTMPIP 
CGGFMPVFVL GAAFGRLVGE IMAMLFPDGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV 
STAVICFELT GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK 
YTIFVEDIMV RDVKFVSASY TYGELRTLLQ TTTVKTLPLV DSKDSMILLG SVERSELQAL 
LQRHLCPERR LRAAQEMARK LSELPYDGKA RLAGEGLPGA PPGRPESFAF VDEDEDEDLS 
GKSELPPSLA LHPSTTAPLS PEEPNGPLPG HKQQPEAPEP AGQRPSIFQS LLHCLLGRAR 
PTKKKTTQDS TDLVDNMSPE EIEAWEQEQL SQPVCFDSCC IDQSPFQLVE QTTLHKTHTL 
FSLLGLHLAY VTSMGKLRGV LALEELQKAI EGHTKSGVQL RPPLASFRNT TSTRKSTGAP 
PSSAENWNLP EDRPGATGTG DVIAASPETP VPSPSPEPPL SLAPGKVEGE LEELELVESP 
GLEEELADIL QGPSLRSTDE EDEDELIL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.