🧬 基因注释：CGNL1
📝 官方信息
官方名称：cingulin like 1
功能摘要：This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 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