Full name: cilia and flagella associated protein 57

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: VWS2; WDR65

Summary: 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 is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Expression: Biased expression in testis (RPKM 8.0), lung (RPKM 1.3) and 2 other tissues

Gene size: 82029bp

Exon count: 28