GTR Home > Genes

WDPCP WD repeat containing planar cell polarity effector

Also known as: FRTZ; BBS15; FRITZ; CHDTHP; C2orf86

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]

Genomic context

Location:
2p15
Sequence:
Chromosome: 2; NC_000002.12 (63120755..63840825, complement)
Total number of exons:
27

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center