CLCN2,氯离子通道蛋白2抗体

产品编号HZ-6470R
英文名称CLCN2
中文名称氯离子通道蛋白2抗体
别 名Chloride Channel 2; Chloride channel protein 2; Chloride channel, voltage sensitive 2; CIC 2; CIC2; ClC-2; CLC2; Clcn2; CLCN2_HUMAN; ECA2; ECA3; EG13; EGI11; EGMA; EJM6; EJM8.
说 明 书0.1ml 0.2ml
研究领域细胞生物 神经生物学 信号转导 通道蛋白
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, .
CLCN2,氯离子通道蛋白2抗体产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:50-200 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量99kDa
细胞定位细胞膜
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human CLCN2/CLC-2
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
CLCN2,氯离子通道蛋白2抗体PubMedPubMed
产品介绍background:
The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport and maintain cellular volume. The genes encoding human CLC-1 through CLC-7 map to chromosomes 7q32, 3q28, 4q32, Xp22.3, Xp11.23-p11.22, 1p36 and 16p13, respectively. CLC1 is highly expressed in skeletal muscle. Mutations in the gene encoding CLC1 lead to myotonia, an inheritable disorder characterized by muscle stiffness and renal salt wasting. CLC2 is highly expressed in the epithelia of several organs including lung, which suggests CLC2 may be a possible therapeutic target for cystic fibrosis. CLC3 expression is particularly abundant in neuronal tissue, while CLC4 expression is evident in skeletal and cardiac muscle as well as brain. Mutations in the gene encoding CLC5 lead to Dent’s disease, a renal disorder characterized by proteinuria and hypercalciuria. CLC6 and CLC7 are broadly expressed in several tissues including testis, kidney, brain and muscle.

Function:
Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.

Subcellular Location:
Membrane; Multi-pass membrane protein.

Tissue Specificity:
Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells.

CLCN2,氯离子通道蛋白2抗体DISEASE:
Defects in CLCN2 are associated with susceptibility to epilepsy, idiopathic generalized type 11 (EIG11) [MIM:607628]. A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.
Defects in CLCN2 are associated with juvenile absence epilepsy type 2 (JAE2) [MIM:607628]. 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.
Defects in CLCN2 are associated with juvenile myoclonic epilepsy type 8 (EJM8) [MIM:607628]. A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.

Similarity:
Belongs to the chloride channel (TC 2.A.49) family. ClC-2/CLCN2 subfamily.
Contains 2 CBS domains.

Database links:

UniProtKB/Swiss-Prot: P51788.2

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.