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WDPCP
613580


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wechseln

WD repeat containing planar cell polarity effector

Scientific background:

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. [provided by RefSeq, Feb 2011]

Methodology:

 

research
test
Method Genomic sequencing of the entire coding region
Turn-around time 25 working days
Effort 25 working days
Specimen DNA|RNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

 

research
test
Method Genomic sequencing of the entire coding region
Turn-around time 25 working days
Effort 25 working days
Specimen DNA|RNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

Systematic link table: 

Bardet-Biedl syndrome
ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
CEP290
MKKS
MKS1
PTHB1
TRIM32
TTC8
WDPCP

Literature: 

Collier S et al. (2005) The WD40 repeat protein fritz links cytoskeletal planar polarity to frizzled subcellular localization in the Drosophila epidermis.
Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.