jagged canonical Notch ligand 1
Senast uppdaterad 11 apr 2023
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
Den JAG1 gene provides instructions for making a protein called Jagged-1, which is involved in an important pathway by which cells can signal to each other. The Jagged-1 protein is inserted into the membranes of certain cells. It connects with other proteins called Notch receptors, which are bound to the membranes of adjacent cells. These proteins fit together like a lock and its key. When a connection is made between the Jagged-1 and Notch proteins, it launches a series of signaling reactions (Notch signaling) affecting cell functions. Notch signaling controls how certain types of cells develop in a growing embryo, especially cells destined to be part of the heart, liver, eyes, ears, and spinal column. The Jagged-1 protein continues to play a role throughout life in the development of new blood cells.
Normal function
Den JAG1 gene provides instructions for making a protein called Jagged-1, which is involved in an important pathway by which cells can signal to each other. The Jagged-1 protein is inserted into the membranes of certain cells. It connects with other proteins called Notch receptors, which are bound to the membranes of adjacent cells. These proteins fit together like a lock and its key. When a connection is made between the Jagged-1 and Notch proteins, it launches a series of signaling reactions (Notch signaling) affecting cell functions. Notch signaling controls how certain types of cells develop in a growing embryo, especially cells destined to be part of the heart, liver, eyes, ears, and spinal column. The Jagged-1 protein continues to play a role throughout life in the development of new blood cells.
Conditions referring to this gene or chromosome
Other names
AGS
AHD
AWS
CD339
CD339 antigen
HJ1
JAG1_HUMAN
jagged 1 (Alagille syndrome)
jagged 1 precursor
JAGL1
Related patient information and medicines
Patient information leaflet
Wilsons sjukdom
Wilsons sjukdom is a genetic disorder in which copper builds up in the body, mainly in the levern och brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further build-up of copper. What is Wilson's disease. Wilson's disease is a condition.
Patient information leaflet
Restless legs-syndrom
Also after a time on dopamine agonists, symptoms can suddenly become much worse. If this is the case, you will need to stop or change your medication. Alpha-2-delta ligands This is another group of recommended medicines (although they do not have a licence for this condition). The two possible options are gabapentin and pregabalin. These are less.
Patient information leaflet
Skärsår
This leaflet gives a guide as to what you should do following a cut. Cuts, lacerations, and grazes are all types of skin wound. A skin wound is a break or damage in the skin. What is a laceration. Sometimes doctors use the word 'laceration' to mean a deep tear of the skin with jagged or irregular edges, usually caused by a blunt impact such as a.
Patient information leaflet
Gallstenar
Gallstenar are common but cause no symptom in two out of three people who have them. They sometimes cause pain, yellowing of your skin or the whites of the eyes ( jaundice ), inflammation of the pancreas ( pancreatitis ) and gallbladder inflammation. Surgery is the usual treatment for gallstones that cause symptoms. What are gallstones..
Patient information leaflet
Sicklecellanlag
If you inherit b gene from one of your parents, called a sickle cell gene, you have a condition called sickle cell trait. If you inherit a sickle cell gene from both parents, you get a double dose of the sickle cell gene. This causes a condition called sickle cell disease (SCD). What is sickle cell trait. Sickle cell trait means having one gene.
Patient information leaflet
Plötslig oväntad död i epilepsi
Sudden unexpected death occurs in a small number of people who have epilepsi. People most at risk are those with severe frequent seizures. Preventing seizures as much as possible with treatment may reduce the risk of sudden death. A support group may be helpful if you are bereaved by an unexpected death of a loved one. For more general information.
Vidare läsning och referenser
- jagged canonical Notch ligand 1; MedlinePlus, National Library of Medicine.
- Boyer-Di Ponio J, Wright-Crosnier C, Groyer-Picard MT, Driancourt C, Beau I, Hadchouel M, Meunier-Rotival M. Biological function of mutant forms of JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. Hum Mol Genet. 2007 Nov 15;16(22):2683-92. doi: 10.1093/hmg/ddm222. Epub 2007 Aug 24.
- Colliton RP, Bason L, Lu FM, Piccoli DA, Krantz ID, Spinner NB. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. Hum Mutat. 2001 Feb;17(2):151-2. doi: 10.1002/1098-1004(200102)17:23.0.CO;2-T.
- Dufraine J, Funahashi Y, Kitajewski J. Notch signaling regulates tumor angiogenesis by diverse mechanisms. Oncogene. 2008 Sep 1;27(38):5132-7. doi: 10.1038/onc.2008.227.
- Guarnaccia C, Dhir S, Pintar A, Pongor S. The tetralogy of Fallot-associated G274D mutation impairs folding of the second epidermal growth factor repeat in Jagged-1. FEBS J. 2009 Nov;276(21):6247-57. doi: 10.1111/j.1742-4658.2009.07333.x. Epub 2009 Sep 23.
- Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Consequences of JAG1 mutations. J Med Genet. 2003 Dec;40(12):891-5. doi: 10.1136/jmg.40.12.891.
- Kim BJ, Fulton AB. The genetics and ocular findings of Alagille syndrome. Semin Ophthalmol. 2007 Oct-Dec;22(4):205-10. doi: 10.1080/08820530701745108.
- Lu F, Morrissette JJ, Spinner NB. Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. Am J Hum Genet. 2003 Apr;72(4):1065-70. doi: 10.1086/374386. Epub 2003 Mar 14.
- McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation. 2002 Nov 12;106(20):2567-74. doi: 10.1161/01.cir.0000037221.45902.69.
- Morrissette JD, Colliton RP, Spinner NB. Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. Hum Mol Genet. 2001 Feb 15;10(4):405-13. doi: 10.1093/hmg/10.4.405.
- Piccoli DA, Spinner NB. Alagille syndrome and the Jagged1 gene. Semin Liver Dis. 2001 Nov;21(4):525-34. doi: 10.1055/s-2001-19036.
- Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M. Jagged1 mutations in alagille syndrome. Hum Mutat. 2001;17(1):18-33. doi: 10.1002/1098-1004(2001)17:13.0.CO;2-T.
- Spinner NB, Loomes KM, Krantz ID, Gilbert MA. Alagille Syndrome. 2000 May 19 [updated 2024 Jan 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1273/
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
11 apr 2023 | Senaste versionen
1 Mar 2010 | 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.