chloride channel 2 antibody; CIC-2 antibody; CLC2 antibody; ECA2 antibody; ECA3 antibody; EGI11 antibody; EGI3 antibody; EGMA antibody; EJM6 antibody; EJM8 antibody; Epilepsy; idiopathic generalized; susceptibility to antibody; CLCN2 antibody

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

Chromosome: 3; NC_000003.11 (184063973..184079439, complement). Location: 3q27-q28

100ug of dried peptide

Shipped at ambient temperature, store at -20 degree C.

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Small volumes of CLCN2 blocking peptide 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.

98,535 Da

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]

Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. Ref.7 Ref.11

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. Ref.6

Involvement in disease: Epilepsy, idiopathic generalized 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.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.Juvenile absence epilepsy 2 (JAE2) [MIM:607628]: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.Juvenile myoclonic epilepsy 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.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Miscellaneous: The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels

By similarity.

Sequence similarities: Belongs to the chloride channel (TC 2.A.49) family. ClC-2/CLCN2 subfamily. [View classification]Contains 2 CBS domains.

Sequence caution: The sequence AAH21578.1 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.

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