KCNE3 Polyclonal Antibody

disease:Defects in KCNE3 are a cause of periodic paralysis hypokalemic (HOKPP) [MIM:170400]; also designated HYPOPP. HOKPP is an autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.,disease:Defects in KCNE3 are a cause of thyrotoxic hypokalemic periodic paralysis (TPP) [MIM:188580]. TPP is seen in individuals of all races and manifests as attacks of episodic weakness with hypokalemia during thyrotoxicosis. TPP is seen most commonly in young Latin American or Asian men where up to 10% of thyrotoxic patients may have periodic paralysis. In such patients thyrotoxicosis has often been overlooked for many months. TPP generally occurs as a sporadic disease, and the periodic paralysis resolves completely with treatment of the thyrotoxicosis, although the muscle phenotype returns if the patient becomes thyrotoxic again later.,function:Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Associated with KCNC4/Kv3.4 is proposed to form the subthreshold voltage-gated potassium channel in skeletal muscle and to establish the resting membrane potential (RMP) in muscle cells. Associated with KCNQ1/KCLQT1 may form the intestinal cAMP-stimulated potassium channel involved in chloride secretion.,similarity:Belongs to the potassium channel KCNE family.,subunit:Associates with KCNC4/Kv3.4. May associate with KCNQ1/KCLQT1.,tissue specificity:Widely expressed with highest levels in kidney and moderate levels in small intestine.,