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]
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
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2. |
Collier S et al. (2005) The WD40 repeat protein fritz links cytoskeletal planar polarity to frizzled subcellular localization in the Drosophila epidermis.
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3. |
Orphanet article
Orphanet ID 247155
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4. |
NCBI article
NCBI 51057
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5. |
OMIM.ORG article
Omim 613580
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6. |
Wikipedia article
Wikipedia EN (Wd_repeat_containing_planar_cell_polarity_effector)
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Update: Aug. 14, 2020