Background

SOX18 (SRY-Box Transcription Factor 18) is a Protein Coding gene. Diseases associated with SOX18 include Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome and Hypotrichosis-Lymphedema-Telangiectasia Syndrome. Among its related pathways are ERK Signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is SOX17. Transcriptional activator that binds to the consensus sequence 5'-AACAAAG-3' in the promoter of target genes and plays an essential role in embryonic cardiovascular development and lymphangiogenesis. Activates transcription of PROX1 and other genes coding for lymphatic endothelial markers. Plays an essential role in triggering the differentiation of lymph vessels, but is not required for the maintenance of differentiated lymphatic endothelial cells. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX17. Interaction with MEF2C enhances transcriptional activation. Besides, required for normal hair development. ( SOX18_HUMAN,P35713 )