Molecular weight (DA)
98kD
Immunogen
Synthesized peptide derived from part region of human protein
Specificity
CLCN2 Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
chloride voltage-gated channel 2(CLCN2) Homo sapiens 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
disease:Defects in CLCN2 are a cause of juvenile absence epilepsy (JAE) [MIM:607631]. 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.,disease: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.,disease:Defects in CLCN2 may be the cause of epilepsy with grand mal seizures on awakening (EGMA) [MIM:607628]. EGMA is a subtype of idiopathic generalized epilepsy (IGE) characterized by generalized tonic-clonic seizures (GTCS) occurri
Protein name
Chloride channel protein 2 (ClC-2)
Fields
>>Mineral absorption
Human protein sequence Database
P51788
Mouse protein sequence database
Q9R0A1
Rat protein sequence database
P35525
Cellular localization
Cell membrane ; Multi-pass membrane protein.
Tissue expression
Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells. Expressed in the adrenal gland, predominantly in the zona glomerulosa (PubMed:29403011).
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