Literature associating KCTD17 and myoclonic dystonia
Potassium channel tetramerization domain containing 17; 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. May be involved in endoplasmic reticulum calcium ion homeostasis.
Synonyms: KCTD17, KCTD17p, hKCTD17, B0QYB2, KCTD17-001 ...