catalog number :
MBS820305
products full name :
Anti-CLCN1 Antibody
products short name :
[CLCN1]
products name syn :
[CLC1; Chloride channel protein 1; ClC-1; Chloride channel protein, skeletal muscle]
other names :
[chloride channel protein 1; Chloride channel protein 1; chloride channel protein 1; clC-1; chloride channel 1, skeletal muscle; chloride channel protein, skeletal muscle; chloride channel, voltage-sensitive 1; Chloride channel protein, skeletal muscle]
products gene name :
[CLCN1]
other gene names :
[CLCN1; CLCN1; CLC1; CLC1; ClC-1]
uniprot entry name :
CLCN1_HUMAN
reactivity :
Human, Mouse, Rat
specificity :
Recognizes endogenous levels of CLCN1 protein.
purity :
The antibody was purified by immunogen affinity chromatography.
form :
Liquid in 0.42% Potassium phosphate, 0.87% Sodium chloride, pH 7.3, 30% glycerol, and 0.01% sodium azide.
storage stability :
Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C for one year. Avoid freeze/thaw cycles.
tested application :
Western Blot (WB)
app notes :
WB (1/500 - 1/1000)
image1 heading :
Western Blot (WB)
other info1 :
Entrez Gene: 1180 (Human); 12723 (Mouse); 25688 (Rat). SwissProt: P35523 (Human); Q64347 (Mouse); P35524 (Rat)
other info2 :
Immunogen: KLH-conjugated synthetic peptide encompassing a sequence within the N-term region of human CLCN1. The exact sequence is proprietary.
products description :
Rabbit polyclonal antibody to CLCN1
ncbi acc num :
NP_000074.2
ncbi gb acc num :
NM_000083.2
ncbi mol weight :
108,626 Da
ncbi pathways :
Ion Channel Transport Pathway (187193); Stimuli-sensing Channels Pathway (771568); Transmembrane Transport Of Small Molecules Pathway (106572)
ncbi 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]
uniprot summary :
CLCN1: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. Defects in CLCN1 are the cause of Thomsen disease (THD); also known as autosomal dominant myotonia congenita (MCD). THD is characterized by skeletal muscle stiffness (delayed relaxation), due to membrane hyperexcitability. A variant form of Thomsen disease is myotonia levior that is characterized by milder symptoms, later onset and absence of muscle hypo- and hypertrophy. Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR); also known as Becker disease. Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily. Protein type: Transporter; Channel, chloride; Membrane protein, integral; Transporter, ion channel; Membrane protein, multi-pass. Chromosomal Location of Human Ortholog: 7q35. Cellular Component: integral to plasma membrane; plasma membrane; sarcolemma. Molecular Function: chloride channel activity; voltage-gated chloride channel activity. Biological Process: muscle contraction; transport; action potential propagation; transmembrane transport. Disease: Myotonia Congenita, Autosomal Recessive; Myotonia Congenita, Autosomal Dominant