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Chloride Channel 1, Skeletal Muscle Proteins (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. Additionally we are shipping Chloride Channel 1, Skeletal Muscle Antibodies (26) and Chloride Channel 1, Skeletal Muscle Kits (11) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
CLCN1 12723 Q64347
Rat CLCN1 CLCN1 25688 P35524
CLCN1 1180 P35523
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Top Chloride Channel 1, Skeletal Muscle Proteins at antibodies-online.com

Showing 5 out of 7 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
HOST_Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
Insect Cells Mouse rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Log in to see 59 to 64 Days
$6,052.17
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Insect Cells Human rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Log in to see 59 to 64 Days
$8,623.45
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HOST_Wheat germ Human GST tag 2 μg Log in to see 9 Days
$333.33
Details

CLCN1 Proteins by Origin and Source

Origin Expressed in Conjugate
Mouse (Murine) ,
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Human , ,
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More Proteins for Chloride Channel 1, Skeletal Muscle (CLCN1) Interaction Partners

Mouse (Murine) Chloride Channel 1, Skeletal Muscle (CLCN1) interaction partners

  1. Sex hormones at high concentration can rapidly modulate ClC-1 in mouse skeletal muscle fibers in vitro.

  2. Myotonia (delayed muscle relaxation) is the most commonly observed symptom in DM1 patients and is caused by aberrant splicing of the skeletal muscle chloride channel (show CLCA1 Proteins) (CLCN1) gene

  3. Myotonia in adult human skeletal actin transgenic mice may be explained on the basis of a mosaic expression of ClC-1 channels in different fibres and/or on alterations of other conductances.

  4. The expression of the muscle chloride channel (show CLCA1 Proteins), ClC-1, in Huntington disease (show HTT Proteins) muscle was compromised by improper splicing and a corresponding reduction in total Clcn1 (gene for ClC-1) mRNA.

  5. the majority of functional ClC-1 channels localize to the sarcolemma and provide essential insight into the basis of myofiber excitability in normal and diseased skeletal muscle.

  6. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel (show CLCA1 Proteins) pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

  7. The A331T mutation causes an unprecedented alteration of ClC-1 gating and reveals novel processes defining transitions between open and closed states in ClC (show CLC Proteins) chloride channels

  8. A distinct autosomal recessive myotonic mouse in the C57BL/6 background (line B6MT)is reported in which the Clc-1 gene shows polymorphism with no functional consequences.

  9. CLC-1 deficiency not only affects muscle relaxation (myotonia) but also modulates diaphragm performance during the contractile phase of the contraction-relaxation cycle

  10. alternative splicing is a posttranscriptional mechanism regulating chloride conductance during muscle development, and the chloride channelopathy in a transgenic mouse model of DM1 results from a failure to execute a splicing transition for CLCN1.

Human Chloride Channel 1, Skeletal Muscle (CLCN1) interaction partners

  1. our study confirms the presence of the myotonia causing CLCN1 mutations p.F167L and p.R105C in the Costa Rican population.

  2. we characterized three other myotonic ClC-1 mutations.

  3. In 4 patients (3 families) with recessive MC, 4 CLCN1 variants were found, 3 of which are new. c.244A>G (p.T82A) and c.1357C>T (p.R453W) were compound heterozygotes with c.568GG>TC (p.G190S). The new c.809G>T (p.G270V) was homozygous.

  4. Our data are consistent with the idea that the CUL4A (show CUL4A Proteins)/B-DDB1 (show DDB1 Proteins)-CRBN (show CRBN Proteins) complex catalyses the polyubiquitination and thus controls the degradation of CLC-1 channels.

  5. investigated sequences of PRRT2 (show PRRT2 Proteins) and CLCN1 in a proband diagnosed with paroxysmal kinesigenic dyskinesia and suspected myotonia congenita; the proband and his father harbored a PRRT2 (show PRRT2 Proteins) c.649dupC mutation, and CLCN1 c.1723C>T and c.2492A>G mutations; first report showing the coexistence of PRRT2 (show PRRT2 Proteins) and CLCN1 mutations

  6. This electrophysiological and clinical observations suggest that heterozygous CLCN1 mutations can modify the clinical and electrophysiological expression of SCN4A (show SCN4A Proteins) mutation.

  7. in Czech patients with myotonia congenita(MC), 34 differentCLCN1 mutations were identified in 51 MC probands (14 new mutations); structural analysis of mutations in the homology model of the dimeric ClC-1 protein was performed; results demonstrate structure-function relationships in the ClC-1 protein which are relevant to understanding the molecular pathogenesis of MC

  8. Early truncating mutations of CLCN1 precluding dimerization are expected to express an autosomal recessive phenotype in patients with myotonia congenita.

  9. The common CIC-1 gate likely occludes the channel pore via interaction of E232 with a highly conserved tyrosine, Y578, at the central anion-binding site.

  10. Two mutations in CN1 (show NT5C1A Proteins) gene, inherited on the same allele as a heterozygous trait, abrogate disease expression, although when inherited singularly they were pathogenic.

Chloride Channel 1, Skeletal Muscle (CLCN1) Protein Profile

Protein 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.

Gene names and symbols associated with CLCN1

  • chloride channel 1, skeletal muscle (CLCN1)
  • chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) (CLCN1)
  • chloride channel 1a (clcn1a)
  • similar to chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) (CLCN1)
  • chloride channel 1 (Clcn1)
  • chloride channel, voltage-sensitive 1 (Clcn1)
  • chloride channel, voltage-sensitive 1 (CLCN1)
  • adr protein
  • Clc-1 protein
  • CLC1 protein
  • CLCN1 protein
  • mto protein
  • myotonia protein
  • nmf355 protein
  • si:dkey-14o18.5 protein
  • SMCC protein
  • SMCC1 protein

Protein level used designations for CLCN1

chloride channel 1, skeletal muscle , chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) , chloride channel protein 1-like , similar to chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) , arrested development of righting response , chloride channel protein 1 , chloride channel protein, skeletal muscle , chloride channel 1, skeletal muscle C-type , clC-1 , skeletal muscle chloride channel 1 , skeletal muscle chloride channel ClC-1

GENE ID SPECIES
100011971 Monodelphis domestica
100050692 Equus caballus
100349073 Oryctolagus cuniculus
100402136 Callithrix jacchus
472560 Pan troglodytes
795133 Danio rerio
100550479 Meleagris gallopavo
100601183 Nomascus leucogenys
703944 Macaca mulatta
12723 Mus musculus
514597 Bos taurus
25688 Rattus norvegicus
1180 Homo sapiens
403723 Canis lupus familiaris
427949 Gallus gallus
100733719 Cavia porcellus
100520812 Sus scrofa
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