Literature associating NPHP3 and Joubert syndrome 3
Nephronophthisis 3 (adolescent); Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.
Synonyms: NPHP3, NPHP3p, hNPHP3, F2Z3A8, H0YAM4 ...