WRAP73

Chr 1

WD repeat containing, antisense to TP73

Also known as: WDR8

NCBI Gene: 49856 ENSG00000116213 UniProt: Q9P2S5

The protein regulates spindle anchoring at mitotic centrosomes, is required for centriole satellite protein targeting to centrosomes, and plays an essential role in ciliogenesis by facilitating ciliary vesicle docking at the basal body. Mutations cause autosomal recessive primary ciliary dyskinesia with early-onset respiratory symptoms, reflecting dysfunction of the ciliary machinery critical for airway clearance. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [provided by RefSeq, Mar 2009]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429