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:

[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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.