DISEASES

Disease-gene associations mined from literature

Literature associating KIAA0586 and Joubert syndrome 4

KIAA0586 [ENSP00000346359]

Protein TALPID3; Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation. Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity); Belongs to the TALPID3 family.

Synonyms:  KIAA0586,  G3V2T5,  G3V4J0,  G3V5U9,  H0YJF0 ...

Linkouts:  STRING  Pharos  UniProt