KCNJ18 Chromosome 17
Potassium inwardly rectifying channel subfamily J member 18
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What This Gene Does
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]
Gene Info
Gene Group
Potassium inwardly rectifying channel subfamily J
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000260458
Associated Conditions (3)
Thyrotoxic periodic paralysis
susceptibility to
2
Key Variants
RS527236153
risk factor
Thyrotoxic periodic paralysis, susceptibility to, 2
Health Risk
RS527236158
risk factor
Thyrotoxic periodic paralysis, susceptibility to, 2
Health Risk
RS527236159
risk factor
Thyrotoxic periodic paralysis, susceptibility to, 2
Health Risk
RS672601244
risk factor
Thyrotoxic periodic paralysis, susceptibility to, 2
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS527236153 | Health Risk | risk factor | Thyrotoxic periodic paralysis, susceptibility to, 2 |
| RS527236158 | Health Risk | risk factor | Thyrotoxic periodic paralysis, susceptibility to, 2 |
| RS527236159 | Health Risk | risk factor | Thyrotoxic periodic paralysis, susceptibility to, 2 |
| RS672601244 | Health Risk | risk factor | Thyrotoxic periodic paralysis, susceptibility to, 2 |