SRY-box transcription factor 9
Última actualización 28 Jun 2022
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El SOX9 gene provides instructions for making a protein that plays a critical role during embryonic development. The SOX9 protein is especially important for development of the skeleton and plays a key role in the determination of sex before birth. The SOX9 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes, particularly those that control skeletal development and sex determination. On the basis of this action, the SOX9 protein is called a transcription factor.
Normal function
El SOX9 gene provides instructions for making a protein that plays a critical role during embryonic development. The SOX9 protein is especially important for development of the skeleton and plays a key role in the determination of sex before birth. The SOX9 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes, particularly those that control skeletal development and sex determination. On the basis of this action, the SOX9 protein is called a transcription factor.
Conditions referring to this gene or chromosome
Otros nombres
SOX9_HUMAN
SRA1
SRY (sex determining region Y)-box 9
SRY (sex-determining region Y)-box 9 protein
SRY box 9
transcription factor SOX9
Related patient information and medicines
Patient information leaflet
Hemofilia
Hemofilia es a rare bleeding disorder that affects your ability to make a clot. The blood contains substances called clotting factors that work with platelets to form a clot. When you injure yourself the clot stops you bleeding. Haemophilia is a condition where there is a deficiency of clotting factors, so people with this condition usually have.
Patient information leaflet
Leucemia linfoblástica aguda
What seems to happen is that certain vital genes cuál control how cells divide, multiply and die son damaged or altered. This makes the cell abnormal. If the abnormal cell survives it may multiply out of control and develop into a leukaemia. In most cases of ALL, the reason why an immature lymphocyte becomes abnormal is not known. There are.
Patient information leaflet
Tuberculosis
Insufficient healthcare. AIDS (TB is common in people con AIDS). The number of people with active TB was at an all-time low in the UK in the early 1980s but the number of cases has since increased. This was probably due to a combination of factors. These include: An increase in poverty. If you or your family come from a country where TB is.
Patient information leaflet
Cáncer de garganta
Although it is increasing in younger people it i... It is most common in people aged over 70 years. Cancer of the larynx occurs in people all over the world but is more common is some countries than in others, probably due to exposure to known risk factors (see below). Types of throat cancer There are different types of throat (laryngeal) cancer:.
Patient information leaflet
Pruebas de coagulación sanguínea
Pruebas de coagulación sanguínea are used to diagnose and assess bleeding problems and to monitor people who take warfarina u otro anticoagulante medicines. You may be advised to have blood clotting tests: If you have a suspected bleeding disorder. For example, if you bleed a lot after cuts, or if you bruise easily. If you have certain liver diseases that can.
Patient information leaflet
Faringitis
Faringitis es an inflammation of the mucus membranes of your voice box (larynx), which causes you to have a hoarse voice. It is most commonly due to an infection, usually a virus. What is laryngitis. Laryngitis means inflammation and irritation of the larynx, which is commonly referred to as the voice box or vocal cords in your throat. Most cases.
Lecturas adicionales y referencias
- SRY-box transcription factor 9; MedlinePlus, National Library of Medicine.
- Alankarage D, Lavery R, Svingen T, Kelly S, Ludbrook L, Bagheri-Fam S, Koopman P, Harley V. SOX9 regulates expression of the male fertility gene Ets variant factor 5 (ETV5) during mammalian sex development. Int J Biochem Cell Biol. 2016 Oct;79:41-51. doi: 10.1016/j.biocel.2016.08.005. Epub 2016 Aug 4.
- Amarillo IE, Dipple KM, Quintero-Rivera F. Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. Am J Med Genet A. 2013 May;161A(5):1167-72. doi: 10.1002/ajmg.a.35847. Epub 2013 Mar 26.
- Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22.
- Bien-Willner GA, Stankiewicz P, Lupski JR. SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Hum Mol Genet. 2007 May 15;16(10):1143-56. doi: 10.1093/hmg/ddm061. Epub 2007 Apr 4.
- Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Med Genet. 2013 May 7;14:50. doi: 10.1186/1471-2350-14-50.
- Gordon CT, Attanasio C, Bhatia S, Benko S, Ansari M, Tan TY, Munnich A, Pennacchio LA, Abadie V, Temple IK, Goldenberg A, van Heyningen V, Amiel J, FitzPatrick D, Kleinjan DA, Visel A, Lyonnet S. Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat. 2014 Aug;35(8):1011-20. doi: 10.1002/humu.22606.
- Hill-Harfe KL, Kaplan L, Stalker HJ, Zori RT, Pop R, Scherer G, Wallace MR. Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. Am J Hum Genet. 2005 Apr;76(4):663-71. doi: 10.1086/429254.
- Kobayashi A, Chang H, Chaboissier MC, Schedl A, Behringer RR. Sox9 in testis determination. Ann N Y Acad Sci. 2005 Dec;1061:9-17. doi: 10.1196/annals.1336.003.
- Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, Yatsenko SA, Lupski JR, Lane AH, Shanske AL, Stankiewicz P, Scherer G. Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet. 2007 Jan;71(1):67-75. doi: 10.1111/j.1399-0004.2007.00736.x.
- Mead TJ, Wang Q, Bhattaram P, Dy P, Afelik S, Jensen J, Lefebvre V. A far-upstream (-70 kb) enhancer mediates Sox9 auto-regulation in somatic tissues during development and adult regeneration. Nucleic Acids Res. 2013 Apr;41(8):4459-69. doi: 10.1093/nar/gkt140. Epub 2013 Feb 28.
- Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet. 2005 Apr;76(4):652-62. doi: 10.1086/429252. Epub 2005 Feb 22.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.