KCTD17 [potassium channel tetramerization domain (KCTD)-containing protein 17] is a member of KCTD family [ [1] ], a group of soluble non-channel proteins involved in a wide spectrum of cell functions, including regulation of cellular proliferation, gene transcription, cytoskeleton organization [ [2] ], protein degradation targeting via the ubiquitin-proteasome system, and regulation of G protein-coupled receptors [ [3] ]. In particular, KCTD17 contributes to synaptogenesis and brain development via the ubiquitin-proteasome machinery, acting as an adaptor for the CUL3-RING E3 ligase [ [4] ]. Protein is highly expressed into the basal ganglia and in particular in the putamen where it participates to endoplasmic reticulum-dependent calcium signalling [ [5] ].
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder / Graziola, F.; Stregapede, F.; Travaglini, L.; Garone, G.; Verardo, M.; Bosco, L.; Pro, S.; Bertini, E.; Curatolo, P.; Vigevano, F.; Capuano, A.. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1353-8020. - 61:(2019), pp. 4-6. [10.1016/j.parkreldis.2018.12.001]
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder
Garone G.;
2019
Abstract
KCTD17 [potassium channel tetramerization domain (KCTD)-containing protein 17] is a member of KCTD family [ [1] ], a group of soluble non-channel proteins involved in a wide spectrum of cell functions, including regulation of cellular proliferation, gene transcription, cytoskeleton organization [ [2] ], protein degradation targeting via the ubiquitin-proteasome system, and regulation of G protein-coupled receptors [ [3] ]. In particular, KCTD17 contributes to synaptogenesis and brain development via the ubiquitin-proteasome machinery, acting as an adaptor for the CUL3-RING E3 ligase [ [4] ]. Protein is highly expressed into the basal ganglia and in particular in the putamen where it participates to endoplasmic reticulum-dependent calcium signalling [ [5] ].I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
