WD Repeat-Containing Protein 66

Alternative Names

WDR66
Cilia- And Flagella-Associated Protein 251
CFAP251

Length

85,328 bases

No. of Exons

No. of isoforms

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

Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_144668.6:c.123del	Lebanon	NC_000012.12:g.121921428del	Pathogenic	Pathogenic	Spermatogenic Failure 33	NG_021364.1:g.7872del; NM_144668.6:c.123del; NP_653269.3:p.Asp42fs	749163856	548450

Download Table

External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=wdr66

Contributors

Pratibha Nair: 13.01.2021

Edit History

Pratibha Nair: 13.01.2021

Back to search Result