CLCN2 Antibody – Rabbit Polyclonal

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]

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: Transporter; Transporter, ion channel; Channel, chloride; Membrane protein, integral; Membrane protein, multi-pass

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