CLCN1 - chloride voltage-gated channel 1 Gene

Homo sapiens

Also known as CLC1

Gene ID: 1180 | Gene type: protein coding

About CLCN1

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:143,316,111-143,352,083 (from NCBI)

This gene has 5 transcripts (splice variants), 284 orthologues, 8 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

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]

CLCN1 Products(1)

mRNA	Protein	Name
NM_000083.3	NP_000074.3	chloride channel protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	26502825	GOA
enables voltage-gated chloride channel activity	IMP IMP: Inferred from mutant phenotype	22521272	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in chloride transmembrane transport	IMP IMP: Inferred from mutant phenotype	22521272	GOA
involved in muscle contraction	IMP IMP: Inferred from mutant phenotype	22521272	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	26502825	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLCN1 Protein Structure

Voltage_CLC

CBS

0
200
400
600
800
988 a.a.

Protein Preferred Names

Protein Names

chloride channel protein 1

chloride channel 1, skeletal muscle

Related Diseases

Diseases

Alias

Myotonia Congenita, Autosomal Recessive

Becker Disease	Myotonia Congenita, Recessive
Myotonia, Generalized	MCAR
Generalized Myotonia	Myotonia Congenita Autosomal Recessive
Becker Generalized Myotonia	Becker Muscular Dystrophy
Obscure African Cardiomyopathy	Myotonia Congenita

Myotonia Congenita, Autosomal Dominant

Myotonia Levior	Thomsen Disease
Thd	Myotonia Congenita, Dominant
MCAD	Myotonia Congenita Autosomal Dominant
Generalized Myotonia Of Thomsen

Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form	Congenital Myotonia
Thomsen And Becker Disease	Thomsen Disease
Thomsen'S Disease	Generalized Myotonia Of Thomsen
Congenital Myotonic Muscular Dystrophy	Myotonia Congenita Nos

Myotonia

Endomyocardial Fibrosis

Becker'S Disease	Obscure African Cardiomyopathy
African Endomyocardial Fibrosis	Endomyocardial Sclerosis
EMF	Becker Muscular Dystrophy

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Smith-Lemli-Opitz Syndrome

SLOS	Rsh Syndrome
7-Dehydrocholesterol Reductase Deficiency	Slo Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome	Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung	Smith-Opitz-Inborn Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung	Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz Syndrome, Type Ii

Headache

Headache Disorder

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Myocardial Infarction

Heart Attack	Myocardial Infarction, Susceptibility To
Myocardial Infarction 1	Myocardial Infarction, Protection Against
Myocardial Infarction, Decreased Susceptibility To	Myocardial Infarction, Decreased
Myocardial Infarct	MCI1
Premature Myocardial Infarction	Myocardial Infarction, Susceptibility To, Type 1

Myotonic Disease

Myotonic Disorders	Myotonic Syndrome
Symptomatic Myotonia

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2	Proximal Myotonic Myopathy
Promm	Ricker Syndrome
DM2	Dystrophia Myotonica 2
Myotonic Myopathy, Proximal	Myotonic Disorders
Dystrophia Myotonica Type 2	Proximal Myotonic Dystrophy
Ricker Disease	Myotonic Dystrophy, Type 2
Dystrophy, Myotonic, Type 2

Migraine With Or Without Aura 1

Migraine	Migraine With Or Without Aura, Susceptibility To, 1
Migraine Disorder	Migraine Variant
Migraines	Migraine Disorders
Mgr1	Mgau
Ma	Migraine With Or Without Aura
Classic Migraine	Common Migraine
Disorder, Migraine	Headache Migraine
Headache Migrainous	Migraine Headache
Migraine Syndrome	Headache Including Migraine
Migraine, Susceptibility To

Myopathy

Muscular Diseases

Myopathies

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Paramyotonia Congenita Of Von Eulenburg

Paramyotonia Congenita	PMC
Paralysis Periodica Paramyotonica	Eulenburg Disease
Myotonia Congenita Intermittens	Von Eulenburg Paramyotonia Congenita
Paralysis Periodica Paramyotonia	Von Eulenberg'S Disease
Paramyotonia Congenita Without Cold Paralysis	Eulenburg Syndrome
Paramyotonia

Hyperkalemic Periodic Paralysis

HYPP	Gamstorp Disease
Gamstorp Episodic Adynamy	Adynamia Episodica Hereditaria With Or Without Myotonia
Familial Hyperkalemic Periodic Paralysis	Hyperkpp
Hyperpp	Adynamia Episodica Hereditaria
Primary Hyperkalemic Periodic Paralysis	Hyperkalemic Periodic Paralysis, Type 2
Sodium Channel Muscle Disease	Familial Hyperpp
Hyperkalemic Pp	Primary Hyperpp
Periodic Paralysis Hyperkalemic	Periodic Paralysis Normokalemic
NKPP	Periodic Paralysis Eukalemic
Paralysis, Hyperkalemic Periodic	Paralysis, Periodic, Hyperkalemic
Potassium Aggravated Myotonia

Familial Periodic Paralysis

Genetic Periodic Paralysis

Paralyses, Familial Periodic

Osteopetrosis

Marble Bone Disease	Albers-Schonberg Disease
Osteopetroses	Marble Bones
Osteopetrosis And Related Disorders	Congenital Osteopetrosis
Marble Bone	Albers-Schoenberg Disease
Albers-Schonberg Osteopetrosis	Osteosclerosis Fragilis
Ivory Bones

Hypokalemic Periodic Paralysis, Type 1

Hypokalemic Periodic Paralysis	Hokpp
Hypopp	Westphall Disease
HOKPP1	Familial Hypokalemic Periodic Paralysis
Familial Periodic Paralysis	Westphal Disease
Hypokalemic Periodic Paralysis Type 1	Hypokalemic Familial Periodic Paralysis
Periodic Hypokalemic Paralysis	Periodic Paralysis I
Hypokpp	Primary Hypokalemic Periodic Paralysis
Periodic Paralysis Hypokalemic 1	Paralysis, Hypokalemic, Periodic
Paralysis, Hypokalemic, Periodic, Type 1

Dent Disease 1

Dent Disease	Dent'S Disease
Dent Disease 2	Dent Disease Type 1
DENT1	Urolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis 2	Nphl2
Dent Syndrome	Dents Disease
Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis	Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets	X-Linked Recessive Nephrolithiasis
Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones	Nephrolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis-Hypercalciuria X-Linked Recessive	Nephrolithiasis, X-Linked Recessive
Dent Disease, Type 1

Bartter Disease

Bartter Syndrome	Bartter'S Syndrome
Aldosteronism With Hyperplasia Of The Adrenal Cortex	Hypokalemic Alkalosis With Hypercalciuria
Potassium Wasting	Juxtaglomerular Hyperplasia With Secondary Aldosteronism
Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria	Salt-Losing Tubular Disorder, Henle'S Loop Type
Salt-Wasting Tubulopathy, Henle'S Loop Type	Bartters Syndrome

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts	Mlc
Van Der Knaap Disease	Lvm
Leukoencephalopathy With Swelling And Cysts	Megalencephaly-Cystic Leukodystrophy
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome	Infantile Leukoencephalopathy And Megalencephaly
Leukoencephalopathy With Swelling And A Discrepantly Mild Course	Vacuolating Leukoencephalopathy
Megalencephalic Leukodystrophy	Megalencephaly-Cystic Leukodystrophy Syndrome
Van Der Knaap Syndrome	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Acatalasemia

Acatalasia	Catalase Deficiency
Deficiency Of Catalase	ACATLAS
Takahara'S Disease	Takahara Disease

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy	Cardiomyopathy, Restrictive
Cardiomyopathy, Constrictive	Primary Restrictive Cardiomyopathy
Rcm	Cardiomyopathy Restrictive

Muscle Tissue Disease

Muscular Disease

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk	Idiopathic Hyperckemia
Isolated Hyperckemia	Elevated Serum Creatine Phosphokinase
H-Ck	Idiopathic Persistent Elevation Of Serum Creatine Kinase

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02753	CLCN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CLCN1	VGNC	VGNC:27395
Felis catus	CLCN1	VGNC	VGNC:60923
Canis familiaris	CLCN1	VGNC	VGNC:39301
Mus musculus	CLCN1	MGD	MGI:88417
Macaca mulatta	CLCN1	VGNC	VGNC:71234
Rattus norvegicus	CLCN1	RGD	RGD:2360