基因注释：CFAP57
官方信息
官方名称：cilia and flagella associated protein 57
功能摘要：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].
作为靶基因的剪接因子
关联疾病
该基因暂无关联疾病记录