QuickView for Clcn1 (gene)

Gene Symbol:

CLCN1 Homo sapiens

Full name:

chloride voltage-gated channel 1

Synonyms:

CLC1, chloride channel protein 1, chloride channel 1, skeletal muscle, chloride channel protein, skeletal muscle, chloride channel, voltage-sensitive 1, clC-1

Genomic Location:

Chr 7: 142723341-142759219

Description:

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 o...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

RSRFC4_01 ,  E4BP4_01 ,  RSRFC4_Q2 ,  NFKAPPAB_01 ,  CTAWWWATA_RSRFC4_Q2 ,  TTAYRTAA_E4BP4_01 ,  NFKAPPAB65_01 ,  MEF2_02 ,  TATAAA_TATA_01 ,  CAGGTG_E12_Q6 ,  CREBP1_01 ,  MEF2_03 ,  TATA_01 ,  IK1_01 ,  TBP_01 ,  NFKB_Q6_01 ,  NFKB_Q6 ,  NFKB_C ,  MEF2_Q6_01

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Cytogenetic Map:

7q34

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