Chloride Channel 1, Skeletal Muscle (CLCN1) ELISA Kits

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. Zusätzlich bieten wir Ihnen Chloride Channel 1, Skeletal Muscle Antikörper (30) und Chloride Channel 1, Skeletal Muscle Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
Anti-Maus CLCN1 CLCN1 12723 Q64347
CLCN1 25688 P35524
CLCN1 1180 P35523
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Human 0.1 ng/mL 0.5-10 ng/mL   96 Tests Anmelden zum Anzeigen 15 bis 18 Tage
$707.14
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Ratte
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Rind (Kuh)
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Ziege
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Kaninchen
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Weitere ELISA Kits für Chloride Channel 1, Skeletal Muscle Interaktionspartner

Mouse (Murine) Chloride Channel 1, Skeletal Muscle (CLCN1) Interaktionspartner

  1. Data show that Muscleblind-like 1 (Mbnl1) and Muscleblind-Like 3 (Mbnl3) bind skeletal muscle chloride channel CIC-1 (Clc-1) mRNA.

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

  3. 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 (zeige CLCA1 ELISA Kits) (CLCN1) gene

  4. 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.

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

  6. 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.

  7. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel (zeige CLCA1 ELISA Kits) pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

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

  9. 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.

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

Human Chloride Channel 1, Skeletal Muscle (CLCN1) Interaktionspartner

  1. Combining our results with the literature on Chinese populations indicates that 21 mutations in CLCN1 have been associated with myotonia congenital, while 7 mutations in SCN4A (zeige SCN4A ELISA Kits) have been associated with paramyotonia congenita, 2 mutations in SCN4A (zeige SCN4A ELISA Kits) have been associated with sodium channel myotonias.

  2. report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype

  3. The present study is the first demonstration of ClC-1 regulation in active human muscle, and it provides a detailed description of the involvement of PKC and ClC-1 in the down-regulation of Gm during AP-firing activity in human skeletal muscle fibres

  4. This study, novel mutations in CLCN1 were detected, and the spectrum of CLCN1 mutations known to be associated with MC was expanded.

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

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

  7. 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.

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

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

  10. This electrophysiological and clinical observations suggest that heterozygous CLCN1 mutations can modify the clinical and electrophysiological expression of SCN4A (zeige SCN4A ELISA Kits) mutation.

Chloride Channel 1, Skeletal Muscle (CLCN1) Antigen-Profil

Beschreibung des Gens

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.

Genbezeichner und Symbole assoziert mit CLCN1

  • chloride voltage-gated channel 1 (CLCN1) Antikörper
  • chloride channel, voltage-sensitive 1a (clcn1a) Antikörper
  • chloride channel protein 1 (LOC100550479) Antikörper
  • chloride channel protein 1 (LOC703944) Antikörper
  • chloride channel, voltage-sensitive 1 (Clcn1) Antikörper
  • chloride voltage-gated channel 1 (Clcn1) Antikörper
  • adr Antikörper
  • Clc-1 Antikörper
  • CLC1 Antikörper
  • CLCN1 Antikörper
  • mto Antikörper
  • myotonia Antikörper
  • nmf355 Antikörper
  • si:dkey-14o18.5 Antikörper
  • SMCC Antikörper
  • SMCC1 Antikörper

Bezeichner auf Proteinebene für 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 SPEZIES
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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