WDPCP — WD Repeat Containing Planar Cell Polarity Effector

WDPCP (BBS15) encodes a planar cell polarity effector protein with WD repeat domains. It is involved in ciliogenesis and septins organization at the ciliary base. Mutations cause Bardet-Biedl syndrome type 15.

Gene description: WDPCP (BBS15) encodes a planar cell polarity effector protein with WD repeat domains. It is involved in ciliogenesis and septins organization at the ciliary base. Mutations cause Bardet-Biedl syndrome type 15.

Clinical significance: Mutations cause BBS15. The protein links planar cell polarity signaling to ciliogenesis, explaining some of the developmental features of BBS.

Inheritance: Autosomal Recessive