The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]
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.
From NCBI Gene:
- Hypotrichosis-lymphedema-telangiectasia syndrome
- Glomerulonephritis with sparse hair and telangiectases
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. [MIM:607823]
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS): A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease. [MIM:137940]