CLCN1

GENE INFORMATION

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Gene name

CLCN1 (HGNC Symbol)

Synonyms

ClC-1, CLC1

Description

chloride channel, voltage-sensitive 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

7 (Chromosome progress)

Cytoband

q34

Chromosome location (bp)

143013219 - 143049176

Ensembl

ENSG00000188037 (version 73.37)

Entrez gene

1180

UniProt

P35523 (UniProt - Evidence at protein level)

neXtProt

NX_P35523

Antibodypedia

CLCN1 antibodies
 

PROTEIN VIEW

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CLCN1-001
 
CLCN1-002
 
CLCN1-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CLCN1-001 ENSP00000339867
ENST00000343257
P35523
Show all »
Show » Show » 988 108.6 No >9
CLCN1-002 ENSP00000395949
ENST00000432192
Show » 76 7.7 No 0
CLCN1-003 ENSP00000400027
ENST00000455478
Show » Show » 102 10.5 No 0