Entity Details
| Primary name |
KCNJ18 |
| Entity type |
gene |
| Source |
Source Link |
Details
| PrimaryID | 100134444 |
| RefseqGene | NG_033093 |
| Symbol | KCNJ18 |
| Name | potassium inwardly rectifying channel subfamily J member 18 |
| Chromosome | 17 |
| Location | 17p11.2 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 2007-12-20 |
| ModificationDate | 2021-06-11 |
Diseases
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| Disease ID | Source | Name | Description |
| 613239 | OMIM | Thyrotoxic periodic paralysis 2 (TTPP2) | A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
Interactions
3 interactions