DISEASES

Disease-gene associations mined from literature

Literature associating ICK and juvenile myoclonic epilepsy

ICK [ENSP00000349458]

Serine/threonine-protein kinase ICK; Required for ciliogenesis. Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length. Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (By similarity).

Synonyms:  ICK,  A0A024RD59,  Q9UPZ9,  KIAA0936,  Q9UPZ9p ...

Linkouts:  STRING  Pharos  UniProt