产品名称
CLCN2 Rabbit Polyclonal Antibody
蛋白名称
Chloride channel protein 2 (ClC-2)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
P51788
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P51788/entry
Mouse Swissprot No.
Q9R0A1
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q9R0A1
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941P35525
免疫原
Synthesized peptide derived from part region of human protein
特异性
CLCN2 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 2(CLCN2) Homo sapiens This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012],
组织表达
Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells. Expressed in the adrenal gland, predominantly in the zona glomerulosa (PubMed:29403011).
细胞定位
Cell membrane ; Multi-pass membrane protein.
功能
disease:Defects in CLCN2 are a cause of juvenile absence epilepsy (JAE) [MIM:607631]. JAE is a subtype of idiopathic generalized epilepsy (IGE) characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening and myoclonic seizures.,disease:Defects in CLCN2 are the cause of childhood absence epilepsy type 3 (ECA3) [MIM:607682]. ECA3 is a subtype of idiopathic generalized epilepsy (IGE) characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3 Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop.,disease:Defects in CLCN2 may be the cause of epilepsy with grand mal seizures on awakening (EGMA) [MIM:607628]. EGMA is a subtype of idiopathic generalized epilepsy (IGE) characterized by generalized tonic-clonic seizures (GTCS) occurring predominantly on awakening. The GTCS can be the only symptom or they can be combined with the other subsyndromes of IGE in childhood or adolescence.,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.,sequence caution:Wrong choice of frame.,similarity:Belongs to the chloride channel (TC 2.A.49) family.,similarity:Contains 2 CBS domains.,tissue specificity:Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
