🧬 基因注释：MKS1
📝 官方信息
官方名称：MKS transition zone complex subunit 1
功能摘要：The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009].
🎯 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