Goat CLCN2 Polyclonal Antibody | anti-CLCN2 antibody
Goat Polyclonal to Human CLCN2
Predicted Reactivity: Monkey (at least 90% immunogen sequence identity)
Predicted Reactivity: Monkey (at least 90% immunogen sequence identity)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
CLCN2: 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 CLCN2 are associated with susceptibility to epilepsy, idiopathic generalized type 11 (EIG11). 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). 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). 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. Belongs to the chloride channel (TC 2.A.49) family. ClC-2/CLCN2 subfamily. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Channel, chloride; Transporter, ion channel; Membrane protein, integral; Membrane protein, multi-pass; Transporter
Chromosomal Location of Human Ortholog: 3q27.1
Cellular Component: plasma membrane
Molecular Function: voltage-gated chloride channel activity
Biological Process: retina development in camera-type eye; transport; transmembrane transport
Disease: Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy With Ataxia