Transcription factor SOX-18
Domain
Binds target DNA via the HMG box domain.
The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Function
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.
Involvement in disease
Hypotrichosis-lymphedema-telangiectasia syndrome
HLTS
A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
HLTRS
A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Detected in heart, lung, placenta, skeletal muscle, liver, kidney, spleen, prostate, ovary, msosmall intestine and colon.
Cellular localization
- Nucleus
Alternative names
Transcription factor SOX-18, SOX18