Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Bardet-Biedl syndrome 15
WDPCP

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 [^]
4.

NCBI article

NCBI 51057 [^]
5.

OMIM.ORG article

Omim 613580 [^]
6.

Wikipedia article

Wikipedia EN (Wd_repeat_containing_planar_cell_polarity_effector) [^]
Update: April 29, 2019