Disease-gene associations mined from literature

Literature associating KIF3A and Bardet-Biedl syndrome 6

KIF3A [ENSP00000385808]

Microtubule plus end-directed kinesin motor 3A; Microtubule-based anterograde translocator for membranous organelles. Plus end-directed microtubule sliding activity in vitro. Plays a role in primary cilia formation. Plays a role in centriole cohesion and subdistal appendage organization and function. Regulates the formation of the subdistal appendage via recruitement of DCTN1 to the centriole. Also required for ciliary basal feet formation and microtubule anchoring to mother centriole; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily.

Synonyms:  KIF3A,  KIF3Ap,  hKIF3A,  C9J9X2,  E9PES4 ...

Linkouts:  STRING  Pharos  UniProt