DISEASES

Disease-gene associations mined from literature

Literature associating KIAA0586 and short-rib thoracic dysplasia 6 with or without polydactyly

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,  A0A087WYM5,  A0A494C058,  A0A494C075,  A0A494C0M8 ...

Linkouts:  STRING  Pharos  UniProt