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 ofhypotrichosis-lymphedema-telangiectasia (HLTS).[7][6] An autosomal truncating dominant mutation in this gene has also been associated with renal failure in the conditionhypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS).[8][9]
^Valenzuela I, Fernández-Alvarez P, Plaja A, Ariceta G, Sabaté-Rotés A, García-Arumí E, Vendrell T, Tizzano E (May 2018). "Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)".European Journal of Medical Genetics.61 (5):269–272.doi:10.1016/j.ejmg.2018.01.001.PMID29307792.
^Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D (April 2015). "Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene".Clinical Genetics.87 (4):378–82.doi:10.1111/cge.12388.PMID24697860.S2CID32417398.
^Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (September 2001). "SOX18 directly interacts with MEF2C in endothelial cells".Biochemical and Biophysical Research Communications.287 (2):493–500.Bibcode:2001BBRC..287..493H.doi:10.1006/bbrc.2001.5589.PMID11554755.
Wilson M, Koopman P (August 2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators".Current Opinion in Genetics & Development.12 (4):441–6.doi:10.1016/S0959-437X(02)00323-4.PMID12100890.
Dunn TL, Mynett-Johnson L, Wright EM, Hosking BM, Koopman PA, Muscat GE (August 1995). "Sequence and expression of Sox-18 encoding a new HMG-box transcription factor".Gene.161 (2):223–5.doi:10.1016/0378-1119(95)00280-J.PMID7665083.
Stanojcić S, Stevanović M (June 2000). "The human SOX18 gene: cDNA cloning and high resolution mapping".Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression.1492 (1):237–41.doi:10.1016/s0167-4781(00)00078-6.PMID10858556.
Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (September 2001). "SOX18 directly interacts with MEF2C in endothelial cells".Biochemical and Biophysical Research Communications.287 (2):493–500.Bibcode:2001BBRC..287..493H.doi:10.1006/bbrc.2001.5589.PMID11554755.
Saitoh T, Katoh M (September 2002). "Expression of human SOX18 in normal tissues and tumors".International Journal of Molecular Medicine.10 (3):339–44.doi:10.3892/ijmm.10.3.339.PMID12165811.
