Anti -CLCN2, NT (CLCN2, Chloride channel protein 2)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 3; NC_000003.11 (184063973..184079439, complement). Location: 3q27.1

Polyclonal

IgG

Rabbit

Human, mouse

Affinity Purified
Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-CLCN2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

The transmembrane protein encoded by this gene is a voltage-gated chloride channel 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.

Antibodies; Abs to Ion Channel

ELISA (EL/EIA), Western Blot (WB)

Suitable for use in Western Blot, ELISA
Dilution: ELISA: 1:1,000
Western Blot: 1:100-500

98,535 Da[Similar Products]

chloride channel, voltage-sensitive 2

chloride channel protein 2; chloride channel 2

Chloride channel protein 2

ClC-2??[Similar Products]

CLCN2_HUMAN

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

Chromosomal Location of Human Ortholog: 3q27.1

Cellular Component: plasma membrane

Molecular Function: voltage-gated chloride channel activity

Biological Process: transport; retina development in camera-type eye; transmembrane transport

Disease: Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy With Ataxia

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