BTB/POZ domain-containing protein KCTD17
Definition:
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.
References:
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[1]. Niccolo E Mencacci, et al. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet. 2015 Jun 4;96(6):938-47. [Content Brief]
[2]. Kousuke Kasahara, et al. Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension. Nat Commun. 2014 Oct 1;5:5081. [Content Brief]
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