DISEASES

Disease-gene associations mined from literature

Literature associating KCTD17 and myoclonic dystonia

KCTD17 [ENSP00000385096]

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 ...

Linkouts:  STRING  Pharos  UniProt