jagged canonical Notch ligand 1
Última actualización 11 Abr 2023
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El 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
El 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
Otros nombres
AGS
AHD
AWS
CD339
CD339 antigen
HJ1
JAG1_HUMAN
jagged 1 (Alagille syndrome)
jagged 1 precursor
JAGL1
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Lecturas adicionales y referencias
- 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/
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