Aliases for KCTD17 Gene
External Ids for KCTD17 Gene
Previous GeneCards Identifiers for KCTD17 Gene
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]
GeneCards Summary for KCTD17 Gene
KCTD17 (Potassium Channel Tetramerization Domain Containing 17) is a Protein Coding gene. Diseases associated with KCTD17 include Dystonia 26, Myoclonic and Dystonia 11, Myoclonic. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is KCTD5.
UniProtKB/Swiss-Prot Summary for KCTD17 Gene
Is a positive regulator of ciliogenesis, playing a crucial role in the initial steps of axoneme extension. It acts as a substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation (PubMed:25270598). May be involved in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243).