Aliases for CGNL1 Gene
External Ids for CGNL1 Gene
Previous GeneCards Identifiers for CGNL1 Gene
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]
GeneCards Summary for CGNL1 Gene
CGNL1 (Cingulin Like 1) is a Protein Coding gene. Diseases associated with CGNL1 include Aromatase Excess Syndrome and Estrogen Excess. Among its related pathways are Tight junction. Gene Ontology (GO) annotations related to this gene include motor activity. An important paralog of this gene is CGN.
UniProtKB/Swiss-Prot Summary for CGNL1 Gene
May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.