Biology:SOX18
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.[1][2]
Function
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 (HLTS).[3][2] An autosomal truncating dominant mutation in this gene has also been associated with renal failure in the condition hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS).[4][5]
Interactions
SOX18 has been shown to interact with:
See also
- SOX genes
References
- ↑ "cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18". Journal of Human Genetics 45 (3): 192–5. July 2000. doi:10.1007/s100380050210. PMID 10807548.
- ↑ 2.0 2.1 "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54345.
- ↑ "Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)". European Journal of Medical Genetics 61 (5): 269–272. May 2018. doi:10.1016/j.ejmg.2018.01.001. PMID 29307792.
- ↑ "Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene". Clinical Genetics 87 (4): 378–82. April 2015. doi:10.1111/cge.12388. PMID 24697860.
- ↑ "Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome". The University of Arizona Health Sciences. https://disorders.eyes.arizona.edu/disorders/hypotrichosis-lymphedema-telangiectasia-renal-defect-syndrome.
- ↑ "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications 287 (2): 493–500. September 2001. doi:10.1006/bbrc.2001.5589. PMID 11554755.
- ↑ "R-propranolol is a small molecule inhibitor of the SOX18 transcription factor in a rare vascular syndrome and hemangioma". eLife 8: e43026. July 2019. doi:10.7554/eLife.43026. PMID 31358114.
Further reading
- "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development 12 (4): 441–6. August 2002. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.
- "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell 3 (2): 167–70. August 2002. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
- "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research 20 (11): 2887. June 1992. doi:10.1093/nar/20.11.2887. PMID 1614875.
- "Sequence and expression of Sox-18 encoding a new HMG-box transcription factor". Gene 161 (2): 223–5. August 1995. doi:10.1016/0378-1119(95)00280-J. PMID 7665083.
- "The human SOX18 gene: cDNA cloning and high resolution mapping". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression 1492 (1): 237–41. June 2000. doi:10.1016/s0167-4781(00)00078-6. PMID 10858556.
- "Structure, mapping, and expression of human SOX18". Mammalian Genome 11 (12): 1147–9. December 2000. doi:10.1007/s003350010216. PMID 11130989. https://github.com/JeremyMGibson/verbose-garbanzo/raw/master/107176/676549.
- "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications 287 (2): 493–500. September 2001. doi:10.1006/bbrc.2001.5589. PMID 11554755.
- "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". The Journal of Biological Chemistry 277 (9): 7021–8. March 2002. doi:10.1074/jbc.M108417200. PMID 11748221.
- "Expression of human SOX18 in normal tissues and tumors". International Journal of Molecular Medicine 10 (3): 339–44. September 2002. doi:10.3892/ijmm.10.3.339. PMID 12165811.
- "Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia". American Journal of Human Genetics 72 (6): 1470–8. June 2003. doi:10.1086/375614. PMID 12740761.
- "Transcription factor SOX18 is expressed in human coronary atherosclerotic lesions and regulates DNA synthesis and vascular cell growth". Arteriosclerosis, Thrombosis, and Vascular Biology 25 (11): 2398–403. November 2005. doi:10.1161/01.ATV.0000187464.81959.23. PMID 16179596.
- "Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development". Journal of the National Cancer Institute 98 (15): 1060–7. August 2006. doi:10.1093/jnci/djj299. PMID 16882943.
- Olbromski M, Podhorska-Okołów M, Dzięgiel P. (2018). "Role of the SOX18 protein in neoplastic processes.". Oncology Letters 16 (2): 1383–89. doi:10.3892/ol.2018.8819. PMID 30008814.
External links
- SOX18+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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