产品名称
CLCN1 Rabbit Polyclonal Antibody
蛋白名称
Chloride channel protein 1 (ClC-1) (Chloride channel protein, skeletal muscle)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
P35523
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P35523/entry
Mouse Swissprot No.
Q64347
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q64347
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941P35524
免疫原
Synthesized peptide derived from part region of human protein
特异性
CLCN1 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
chloride voltage-gated channel 1(CLCN1) Homo sapiens 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],
组织表达
Predominantly expressed in skeletal muscles.
细胞定位
Cell membrane ; Multi-pass membrane protein .
功能
disease:Defects in CLCN1 are the cause of autosomal dominant myotonia congenita (MCD) [MIM:160800]; also known as Thomsen disease. MCD 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.,disease:Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR) [MIM:255700]; also known as Becker disease.,function:Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.,miscellaneous:The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels.,similarity:Belongs to the chloride channel (TC 2.A.49) family.,similarity:Contains 2 CBS domains.,subunit:Homotetramer.,tissue specificity:Predominantly expressed in skeletal muscles.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
