CGNL1 - cingulin like 1 Gene

中文名称：样 1

种属: Homo sapiens

同用名: JACOP; PCING

关于 CGNL1

功能概要

该基因编码 cingulin 家族的一个成员。编码的蛋白质定位于粘附和紧密的细胞-细胞连接处，并通过调节小 GTPases RhoA 和 Rac1 的活性来介导连接组装和维护。导致该基因的启动子与芳香酶基因相关联的杂合染色体重排是芳香酶过量综合征的原因。已观察到该基因的可变剪接转录物变体。[RefSeq 提供，2011 年 11 月]

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]