Potassium Inwardly Rectifying Channel Subfamily J, Member 18 (KCNJ18)

KIR2.6; TTPP2; Inward Rectifier Potassium Channel 18; Inward rectifier K(+) channel Kir2.6

Potassium Inwardly Rectifying Channel Subfamily J, Member 18 (KCNJ18)
Defects in KCNJ18 are a cause of susceptibility to thyrotoxic hypokalemic periodic paralysis (TTPP2). TPP is characterized by acute attacks of weakness, hypokalemia, and thyrotoxicosis of various etiologies. These transient attacks resemble those of patients with familial hypokalemic periodic paralysis (hypoKPP) and resolve with treatment of the underlying hyperthyroidism. TPP might also be a channelopathy.Kir2.6. This channel, nearly identical to Kir2.2, is expressed in skeletal muscle and is transcriptionally regulated by thyroid hormone. Expression of Kir2.6 in mammalian cells revealed normal Kir currents in whole-cell and single-channel recordings. Kir2.6 mutations were present in up to 33% of the unrelated TPP patients. Some of these mutations clearly alter a variety of Kir2.6 properties, all altering muscle membrane excitability leading to paralysis.

Organism species: Homo sapiens (Human)