DISEASES

Disease-gene associations mined from literature

Literature associating NPHP3 and Bardet-Biedl syndrome 15

NPHP3 [ENSP00000338766]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM