| Gene Symbol | KCTD17 |
| Entrez Gene ID | 79734 |
| Full Name | potassium channel tetramerization domain containing 17 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]. |
| Disorder MIM: | |
| Disorder Html: | Dystonia 26, myoclonic, 616398 (3) |







































User Manual