SRY-box transcription factor 10
Senast uppdaterad 2 May 2023
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
Den SOX10 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The SOX gene family also maintains the normal function of certain cells after birth. To carry out these roles, proteins made by genes in the SOX family bind to specific areas of DNA. By attaching to critical regions near genes, SOX proteins help control the activity of those genes. SOX proteins are called transcription factors on the basis of this action.
Normal function
Den SOX10 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The SOX gene family also maintains the normal function of certain cells after birth. To carry out these roles, proteins made by genes in the SOX family bind to specific areas of DNA. By attaching to critical regions near genes, SOX proteins help control the activity of those genes. SOX proteins are called transcription factors on the basis of this action.
During embryonic development, the SOX10 gene is active in cells called neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. The protein made by the SOX10 gene directs the activity of other genes (such as MITF) that signal neural crest cells to become more specific cell types. In particular, the SOX10 protein is essential for the formation of nerves in the intestine (enteric nerves) and for the production of specialized cells called melanocytes. Melanocytes produce melanin, a pigment that contributes to skin, hair, and eye colour. Melanin is also involved in the normal function of the inner ear.
Conditions referring to this gene or chromosome
Other names
DOM
dominant megacolon, mouse, human homolog of
SOX10_HUMAN
SRY (sex determining region Y)-box 10
SRY box 10
SRY-related HMG-box gene 10
transcription factor SOX-10
WS4
Related patient information and medicines
Patient information leaflet
Akut lymfatisk leukemi
The immature cells are called lymphoblasts. There are various subtypes of ALL. For example, the abnormal lymphoblasts can be immature B or T lymphocytes. The abnormal lymphoblasts continue to divide and multiply but do not mature into proper lymphocytes. Typically, ALL develops quite quickly (acutely) and rapidly becomes worse (over a few weeks or.
Patient information leaflet
Halscancer
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: Squamous cell carcinoma of the larynx occurs in more than 9 in 10 cases. This type arises from cells.
Patient information leaflet
Extrauterin graviditet
It occurs in about 11 in 1,000 pregnancies. Although many ectopic pregnancies are now treated without the need for an operation, you should always see a doctor urgently if you think you have an ectopic pregnancy symptoms. Symptoms include lower tummy (abdominal) pain which can become severe. A ruptured ectopic pregnancy is life-threatening,.
Patient information leaflet
Schizofreni
Schizophrenia is a mental disorder. Symptoms include hearing, seeing, smelling or tasting things that are not real (hallucinations); false ideas (delusions); disordered thoughts and problems with feelings, behaviour and motivation. The cause is not clear. In many people symptoms come back (recur) or persist long-term but some people have just one.
Patient information leaflet
Strupkatarr
Strupkatarr is 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.
Patient information leaflet
Kardiovaskulär sjukdom
Cardiovascular diseases (CVD) is a general term to describe diseases of the heart or blood vessels. The cause of most cardiovascular disease is a build-up of atheroma - a fatty deposit within the inside lining of arteries. The blood flow to the heart muscle may also be restricted by a blood clot in an artery taking blood to the heart muscle.
Vidare läsning och referenser
- SRY-box transcription factor 10; MedlinePlus, National Library of Medicine.
- Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet. 2007 Dec;81(6):1169-85. doi: 10.1086/522090. Epub 2007 Oct 22.
- Chaoui A, Watanabe Y, Touraine R, Baral V, Goossens M, Pingault V, Bondurand N. Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. Hum Mutat. 2011 Dec;32(12):1436-49. doi: 10.1002/humu.21583. Epub 2011 Sep 19.
- Iso M, Fukami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. SOX10 mutation in Waardenburg syndrome type II. Am J Med Genet A. 2008 Aug 15;146A(16):2162-3. doi: 10.1002/ajmg.a.32403. No abstract available.
- Mollaaghababa R, Pavan WJ. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene. 2003 May 19;22(20):3024-34. doi: 10.1038/sj.onc.1206442.
- Pingault V, Zerad L, Bertani-Torres W, Bondurand N. SOX10: 20 years of phenotypic plurality and current understanding of its developmental function. J Med Genet. 2022 Feb;59(2):105-114. doi: 10.1136/jmedgenet-2021-108105. Epub 2021 Oct 19.
- Sham MH, Lui VC, Chen BL, Fu M, Tam PK. Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. J Med Genet. 2001 Sep;38(9):E30. doi: 10.1136/jmg.38.9.e30. No abstract available.
- Zhang H, Chen H, Luo H, An J, Sun L, Mei L, He C, Jiang L, Jiang W, Xia K, Li JD, Feng Y. Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. Hum Genet. 2012 Mar;131(3):491-503. doi: 10.1007/s00439-011-1098-2. Epub 2011 Oct 1.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
2 May 2023 | Senaste versionen
1 Aug 2022 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.