DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development. Acts either as a transcrip...[+]

DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development. Acts either as a transcriptional activator or repressor. Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes. Upon DNA-binding, promotes DNA bending. Required for cell viability and resistance to oxidative stress in the eye. Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals. Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion. Involved in chemokine-induced endothelial cell migration. Plays a role in epidermal keratinocyte terminal differentiation. Essential developmental transcriptional factor required for mesoderm-derived tissues formation, such as the somites, skin, bone and cartilage. Plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Plays a role at the gastrula stage for expression of several mesodermal and endodermal genes (PubMed:17705306). At the late neurula stage, regulates expression of adhesion genes to maintain cell adhesion in the mesodermal germ layer (PubMed:17705306). [-]

             Peters anomaly
             Axenfeld-Rieger syndrome type 3
             Axenfeld-Rieger syndrome
             anterior segment dysgenesis 3

          AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD