The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 0.3 - 1 µg/ml. Detects a band of approximately 100 kDa (predicted molecular weight: 98 kDa).
機能Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.
組織特異性Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells.
関連疾患Defects in CLCN2 are associated with susceptibility to idiopathic generalized epilepsy type 11 (IGE11) [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 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. 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.
配列類似性Belongs to the chloride channel (TC 2.A.49) family. ClC-2/CLCN2 subfamily. Contains 2 CBS domains.