{"symbol":"KCTD17","synonyms":[],"name":"potassium channel tetramerization domain containing 17","description":"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]","ncbiEntrezGeneId":79734,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/79734","proteins":[{"symbol":"KCD17_HUMAN","href":"/api/1.0/protein/KCD17_HUMAN"}],"hgncRootFamilies":[]}