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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…

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Aliases
CLCN1, CLC1, chloride voltage-gated channel 1
Band
7q34 · 6 B2.1|6 20.57 cM
Bgee
muscle of thigh · triceps brachii muscle · Skeletal muscle tissue of rectus abdominis · vastus lateralis muscle · biceps brachii
BioGPS
More reference expression data
Chr.
Chromosome 7 (human) · Chromosome 6 (mouse)
Databases
NCBI: entry; OMA: entry

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CLCN1

Nodes8
Edges7
Triples87
Avg. degree1.75
Density0.25
Components1

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CLCN1

Top relations

Bgee · 19
CLCN1 → ankle, biceps brachii, body of tongue, buccal mucosa cell, extensor digitorum longus muscle, extraocular muscle, gastrocnemius muscle, gonad, muscle of thigh, plantaris muscle, quadriceps femoris muscle, skeletal muscle tissue, Skeletal muscle tissue of biceps brachii, Skeletal muscle tissue of rectus abdominis, soleus muscle, tibialis anterior muscle, triceps brachii muscle, triceps surae, vastus lateralis muscle
Gene ontology · 19
CLCN1 → chloride channel activity, chloride channel complex, chloride transmembrane transport, chloride transport, integral component of membrane, integral component of plasma membrane, ion transmembrane transport, ion transport, membrane, muscle contraction, neuronal action potential propagation, plasma membrane, protein binding, protein homodimerization activity, regulation of ion transmembrane transport, sarcolemma, transmembrane transport, voltage-gated chloride channel activity, voltage-gated ion channel activity
RNA expression pattern · 19
CLCN1 → ankle, biceps brachii, body of tongue, buccal mucosa cell, extensor digitorum longus muscle, extraocular muscle, gastrocnemius muscle, gonad, muscle of thigh, plantaris muscle, quadriceps femoris muscle, skeletal muscle tissue, Skeletal muscle tissue of biceps brachii, Skeletal muscle tissue of rectus abdominis, soleus muscle, tibialis anterior muscle, triceps brachii muscle, triceps surae, vastus lateralis muscle
related to External links · 10
CLCN1 → GeneReviews/NCBI/NIH/UW, Human CLCN1, Medicine, Medicine Medical Subject Headings, MeSH, Myotonia CongenitaCLCN1, National Library, This, UCSC Genome Browser, United States National Library
Band · 2
CLCN1 → 6 B2.1|6 20.57 cM, 7q34
Chr. · 2
CLCN1 → Chromosome 6 (mouse), Chromosome 7 (human)
End · 2
CLCN1 → 143,352,083 bp, 42,292,690 bp
Aliases · 1
CLCN1 → CLCN1, CLC1, chloride voltage-gated channel 1
BioGPS · 1
CLCN1 → More reference expression data
Databases · 1
CLCN1 → NCBI: entry; OMA: entry

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Important terminology

chloride channel muscle gene human skeletal protein ions myotonia bp chr band chromosome cells location function ion encoded mutations cause

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
CLCN1AliasesCLCN1, CLC1, chloride voltage-gated channel 11.00infobox
CLCN1Band7q341.00infobox
CLCN1Band6 B2.1|6 20.57 cM1.00infobox
CLCN1Bgeemuscle of thigh1.00infobox
CLCN1Bgeetriceps brachii muscle1.00infobox
CLCN1BgeeSkeletal muscle tissue of rectus abdominis1.00infobox
CLCN1Bgeevastus lateralis muscle1.00infobox
CLCN1Bgeebiceps brachii1.00infobox
CLCN1Bgeegastrocnemius muscle1.00infobox
CLCN1BgeeSkeletal muscle tissue of biceps brachii1.00infobox
CLCN1Bgeebuccal mucosa cell1.00infobox
CLCN1Bgeegonad1.00infobox
CLCN1Bgeebody of tongue1.00infobox
CLCN1Bgeeextensor digitorum longus muscle1.00infobox
CLCN1Bgeeplantaris muscle1.00infobox
CLCN1Bgeeskeletal muscle tissue1.00infobox
CLCN1Bgeeextraocular muscle1.00infobox
CLCN1Bgeequadriceps femoris muscle1.00infobox
CLCN1Bgeeankle1.00infobox
CLCN1Bgeetriceps surae1.00infobox
CLCN1Bgeesoleus muscle1.00infobox
CLCN1Bgeetibialis anterior muscle1.00infobox
CLCN1BioGPSMore reference expression data1.00infobox
CLCN1Chr.Chromosome 7 (human)1.00infobox
CLCN1Chr.Chromosome 6 (mouse)1.00infobox
CLCN1DatabasesNCBI: entry; OMA: entry1.00infobox
CLCN1End143,352,083 bp1.00infobox
CLCN1End42,292,690 bp1.00infobox
CLCN1EnsemblENSG000001880371.00infobox
CLCN1Entrez11801.00infobox

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