DISEASES

Disease-gene associations mined from literature

Literature associating SOX18 and lymphedema-distichiasis syndrome

SOX18 [ENSP00000341815]

Transcription factor SOX-18; 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.

Synonyms:  SOX18,  SOX18p,  hSOX18,  P35713,  P35713p ...

Linkouts:  STRING  Pharos  UniProt  OMIM