WD repeat containing planar cell polarity effector
This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. [provided by RefSeq, Feb 2011]
Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
Collier S et al. (2005) The WD40 repeat protein fritz links cytoskeletal planar polarity to frizzled subcellular localization in the Drosophila epidermis.
Orphanet ID 247155 [^]
NCBI 51057 [^]
Omim 613580 [^]
Wikipedia EN (Wd_repeat_containing_planar_cell_polarity_effector) [^]
Update: April 29, 2019