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CGNL1 is 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.
Gene Name: | Cingulin-like 1 |
Synonyms: | CGNL1, Cingulin-like protein 1, Cingulin-like 1, JACOP, Paracingulin, KIAA1749 |
Target Sequences: | NM_032866 NP_116255.2 Q0VF96 |
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