KIAA0586
Description
The KIAA0586 (KIAA0586) is a protein-coding gene located on chromosome 14.
KIAA0586 is essential for ciliogenesis and sonic hedgehog/SHH signaling. It facilitates the recruitment of RAB8A to the centrosome and directs centriole satellite proteins like PCM1 to centrosomes. This protein may be involved in early ciliogenesis by mediating the disappearance of centriolar satellites before the formation of ciliary vesicles (PubMed:24421332). It plays a role in regulating cell intracellular organization and cell polarity (by similarity). KIAA0586 is crucial for the asymmetric localization of CEP120 to daughter centrioles (by similarity).
KIAA0586 is also known as JBTS23, SRTD14, Talpid3.
Associated Diseases
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- Joubert syndrome 23
- Short-Rib thoracic dysplasia 14 with polydactyly
- Joubert syndrome
