KCTD17
Function
Substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediates the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation. Thereby, positively regulates ciliogenesis, playing a crucial role in the initial steps of axoneme extension (PubMed:25270598). May also play a role in endoplasmic reticulum calcium ion homeostasis (PubMed:25983243).
Involvement in disease
Dystonia 26, myoclonic
DYT26
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Highly expressed in brain. Highest expression is observed in the putamen and the thalamus.
Cellular localization
- Cytoplasm
Alternative names
BTB/POZ domain-containing protein KCTD17, KCTD17