基因名:
Cgnl1
产品别名:
4933421H10Rik; 9930020M10Rik; AI503810; Jacop; Cgnl1; cingulin-like 1; cingulin-like 1; cingulin-like protein 1; junction-associated coiled-coil protein; paracingulin; 结蛋白样蛋白CGNL1;
背景信息:
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]