Gene Symbol | KCNJ18 |
Entrez Gene ID | 100134444 |
Full Name | potassium voltage-gated channel subfamily J member 18 |
Synonyms | KIR2.6,TTPP2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane potential maintenance. Mutations in this locus have been associated with thyrotoxic hypokalemic periodic paralysis. [provided by RefSeq, Jan 2013]. |
Disorder MIM: | |
Disorder Html: | {Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3) |