Gene: KCTD17

Alternate names for this Gene: -

Gene 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: potassium channel tetramerization domain containing 17

Type of Gene: protein-coding