WD Repeat-Containing Protein 66

Alternative Names

  • WDR66
  • Cilia- And Flagella-Associated Protein 251
  • CFAP251

Associated Diseases

Spermatogenic Failure 33
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OMIM Number

618146

NCBI Gene ID

144406

Uniprot ID

Q8TBY9

Length

85,328 bases

No. of Exons

23

No. of isoforms

3

Protein Name

Cilia- and flagella-associated protein 251

Molecular Mass

129952 Da

Amino Acid Count

1149

Genomic Location

chr12:121,918,591-122,003,918

Gene Map Locus
12q24.31

Description

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [From RefSeq, Sep 2011]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_144668.6:c.123delLebanonNC_000012.12:g.121921428delPathogenicSpermatogenic Failure 33NG_021364.1:g.7872del; NM_144668.6:c.123del; NP_653269.3:p.Asp42fs749163856548450
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