Aliases for CFAP251 Gene
External Ids for CFAP251 Gene
Previous HGNC Symbols for CFAP251 Gene
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. [provided by RefSeq, Sep 2011]
GeneCards Summary for CFAP251 Gene
CFAP251 (Cilia And Flagella Associated Protein 251) is a Protein Coding gene. Diseases associated with CFAP251 include Spermatogenic Failure 33 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. An important paralog of this gene is EML5.
UniProtKB/Swiss-Prot Summary for CFAP251 Gene
Involved in spermatozoa motility (PubMed:30122540, PubMed:30122541). May also regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity).