phosphoribosyl pyrophosphate synthetase 1
Última actualización 19 Apr 2023
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a molecule called phosphoribosyl pyrophosphate (PRPP). PRPP is involved in making purine and pyrimidine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.
Normal function
El PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a molecule called phosphoribosyl pyrophosphate (PRPP). PRPP is involved in making purine and pyrimidine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.
Purines and pyrimidines may be manufactured from smaller molecules, or they can be recycled from the breakdown of DNA and RNA in a series of reactions called the salvage pathway. Manufacturing purines and pyrimidines uses much more energy and takes more time than recycling them, which makes recycling these molecules more efficient. The salvage pathway ensures that cells have a plentiful supply of purines and pyrimidines.
PRPP synthetase 1 and PRPP are involved in the manufacture of new purines and pyrimidines, and are also essential for the purine salvage pathway.
Conditions referring to this gene or chromosome
Otros nombres
ARTS
CMTX5
dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
KIAA0967
PPRibP
PRPS1_HUMAN
PRSI
Related patient information and medicines
Patient information leaflet
Arteritis de células gigantes
Giant cell arteritis (GCA), also known as temporal arteritis, is a condition which causes inflamación on the inside of some blood vessels (arteries). Possible side-effects from steroids include... Because the dose of steroids for giant cell (temporal) arteritis is high, everyone who is having steroids to treat this should also be offered a.
Patient information leaflet
Cálculos renales
Cálculos renales are hard stones that can cause severe pain in your side along with blood in your urine, and nausea and vomiting. You are more likely to develop kidney stones if you eat a Western diet, don't drink enough fluids or are overweight. Once you have had one episode they are likely to recur but there are several kidney stone treatment.
Patient information leaflet
Hemofilia
There is no cure but with available treatments most people with haemophilia are able to live normal lives. What is haemophilia. Hemofilia es a rare bleeding disorder caused by deficiency of clotting factors. Clotting factors are present in the blood and are responsible for forming blood clots in response to an injury. Haemophilia B is the more.
Patient information leaflet
enfermedad de Wilson
enfermedad de Wilson is a genetic bipolar in which copper builds up in the body, mainly in the liver and 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
Enfermedad renal diabética
Also, it aims to reduce the risk of developing cardiovascular diseases such as heart attack and stroke which are much more common than average in people with this disease. To find out more about the kidneys and urine, see the leaflet called What do kidneys do. What is diabetic kidney disease. Diabetic kidney disease (diabetic nephropathy) is a.
Patient information leaflet
Efluvio telógeno
Telogen effluvium (hair loss) is a condition dónde more than normal amounts of hair fall out. There is a general 'thinning' of the hair. Unlike some other hair and scalp conditions, it is temporary and the hair growth usually recovers. What is telogen effluvium. Telogen effluvium is rapid hair loss that is caused by stress or a change to your.
Lecturas adicionales y referencias
- phosphoribosyl pyrophosphate synthetase 1; MedlinePlus, National Library of Medicine.
- Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, Lopez-Molina MI, Garcia-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9.
- Braid T, Scholten S, Yoganathan S, Alsalamah AK, Deschenes D, Deslongchamps G, Goobie S, Heon E, Tein I, Deshwar AR. Broadening the phenotypic and molecular spectrum of PRS deficiency in females. HGG Adv. 2026 Jul 9;7(3):100601. doi: 10.1016/j.xhgg.2026.100601. Epub 2026 Apr 1.
- Camici M, Garcia-Gil M, Allegrini S, Pesi R, Bernardini G, Micheli V, Tozzi MG. Inborn Errors of Purine Salvage and Catabolism. Metabolites. 2023 Jun 24;13(7):787. doi: 10.3390/metabo13070787.
- de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. PRPS1 mutations: four distinct syndromes and potential treatment. Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024.
- de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3.
- de Brouwer APM, Christodoulou J. Phosphoribosylpyrophosphate Synthetase Deficiency. 2008 Oct 21 [updated 2023 Jun 8]. 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/NBK2591/
- de Brouwer APM, Christodoulou J. Phosphoribosylpyrophosphate Synthetase Superactivity. 2008 Sep 23 [updated 2022 Feb 17]. 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/NBK1973/
- Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007 Sep;81(3):552-8. doi: 10.1086/519529. Epub 2007 Jun 29.
- Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D. Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy. Int J Audiol. 2013 Jan;52(1):23-8. doi: 10.3109/14992027.2012.736032. Epub 2012 Nov 28.
- Mittal R, Patel K, Mittal J, Chan B, Yan D, Grati M, Liu XZ. Association of PRPS1 Mutations with Disease Phenotypes. Dis Markers. 2015;2015:127013. doi: 10.1155/2015/127013. Epub 2015 May 24.
- Nyhan WL. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33. doi: 10.1016/j.ymgme.2005.07.027.
- Zheng M, Ma JW. Research progress in the genetics of hyperuricaemia and gout. Yi Chuan. 2016 Apr;38(4):300-13. doi: 10.16288/j.yczz.15-385.
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.