Gene Symbol | WDPCP |
Entrez Gene ID | 51057 |
Full Name | WD repeat containing planar cell polarity effector |
Synonyms | BBS15,C2orf86,CHDTHP,FRITZ,FRTZ |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. |
Disorder MIM: | |
Disorder Html: | ?Bardet-Biedl syndrome 15, 615992 (3); ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3) |