CGNL1 gene

cingulin like 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons.

From UniProt:

Aromatase excess syndrome (AEXS): An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. [MIM:139300]

Cytogenetic Location: 15q21.3, which is the long (q) arm of chromosome 15 at position 21.3

Molecular Location: base pairs 57,376,487 to 57,550,727 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q21.3, which is the long (q) arm of chromosome 15 at position 21.3
  • JACOP
  • PCING