leucine rich repeat kinase 2
Dernière mise à jour 17 Jul 2023
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La LRRK2 gene provides instructions for making a protein called dardarin. The LRRK2 gene is active in the brain and other tissues throughout the body.
Normal function
La LRRK2 gene provides instructions for making a protein called dardarin. The LRRK2 gene is active in the brain and other tissues throughout the body.
One segment of the dardarin protein is called a leucine-rich region because it contains a large amount of a protein building block (amino acid) known as leucine. Proteins with leucine-rich regions appear to play a role in activities that require interactions with other proteins, such as transmitting signals or helping to assemble the cell's structural framework (cytoskeleton). Other parts of the dardarin protein are also thought to be involved in protein-protein interactions.
Additional studies indicate that dardarin has an enzyme function known as kinase activity. Proteins with kinase activity assist in the transfer of a phosphate group (a cluster of oxygen and phosphorus atoms) from the energy molecule ATP to amino acids in certain proteins. This phosphate transfer is called phosphorylation, and it is an essential step in turning on and off many cell activities. Dardarin also has a second enzyme function referred to as a GTPase activity. This activity is associated with a region of the protein called the ROC domain. The ROC domain may help control the overall shape of the dardarin protein.
Conditions referring to this gene or chromosome
Other names
DRDN
leucine-rich repeat kinase 2
LRRK2_HUMAN
PARK8
RIPK7
ROCO2
Related patient information and medicines
Patient information leaflet
Cancer de la bouche
Mouth cancer is a cancer that can develop in any part of the mouth, including the tongue, the gums, the palate (roof of the mouth), under the tongue, the skin lining the mouth or the lips. Tyrosine kinase inhibitors (TKIs) are another. Immunotherapy is treatment ... It is also sometimes called biological therapy: Recombinant interleukin (rIL-2) is.
Patient information leaflet
Myélofibrose
Myelofibrosis is a condition affecting the bone marrow and its blood cell production. What is myelofibrosis. In myelofibrosis the cells... It's not known what causes the genetic mutation in blood stem cells. The gene mutation that occurs in most people affected by la myélofibrose is a mutation dans Janus Kinase 2 (JAK2). Other gene mutations may also.
Patient information leaflet
Grossesse extra-utérine
Rarely, an ectopic pregnancy occurs in other places such as in the ov... Also rarely, a pregnancy can develop in the womb at the same time as an ectopic pregnancy outside the womb (a heterotopic pregnancy). The rest of this leaflet deals only with tubal ectopic pregnancy. What increases the risk of an ectopic pregnancy. The chance is higher than.
Patient information leaflet
Maladies de stockage du glycogène
Maladies de stockage du glycogène are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Most are diagnosed in childhood. Symptoms include weakness,.
Patient information leaflet
Dyshidrose
Dyshidrose est un type de eczéma where there are itchy blisters on the hands and feet, followed by inflamed and dry skin. The condition is usually long-term, with symptoms that come and go at various times. The first step in mana... In some cases it has been shown to be helpful for the treatment of pompholyx. Janus Kinase (JAK) inhibitors : these.
Patient information leaflet
Tests de fonction hépatique
Tests de fonction hépatique are also used for monitoring in cases of known liver inflammation, injury or disease. What are the main liver function tests. The usual liver function tests typically include the following: Bilirubin. Although single, mildly abnormal tests are not usually significant, any unexplained abnormality general... Abnormal liver.
Lectures complémentaires et références
- leucine rich repeat kinase 2; MedlinePlus, National Library of Medicine.
- Bonifati V. LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease. Neurochem Res. 2007 Oct;32(10):1700-8. doi: 10.1007/s11064-007-9324-y. Epub 2007 Apr 18.
- Cookson MR. The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease. Nat Rev Neurosci. 2010 Dec;11(12):791-7. doi: 10.1038/nrn2935. Epub 2010 Nov 19.
- Di Fonzo A, Rohe CF, Ferreira J, Chien HF, Vacca L, Stocchi F, Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA, Bonifati V; Italian Parkinson Genetics Network. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet. 2005 Jan 29-Feb 4;365(9457):412-5. doi: 10.1016/S0140-6736(05)17829-5.
- Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Holton JL, Revesz T, Wood NW. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet. 2005 Jan 29-Feb 4;365(9457):415-6. doi: 10.1016/S0140-6736(05)17830-1.
- Guo L, Wang W, Chen SG. Leucine-rich repeat kinase 2: relevance to Parkinson's disease. Int J Biochem Cell Biol. 2006;38(9):1469-75. doi: 10.1016/j.biocel.2006.02.009. Epub 2006 Mar 2.
- Kumar A, Cookson MR. Role of LRRK2 kinase dysfunction in Parkinson disease. Expert Rev Mol Med. 2011 Jun 13;13:e20. doi: 10.1017/S146239941100192X.
- Lesage S, Durr A, Tazir M, Lohmann E, Leutenegger AL, Janin S, Pollak P, Brice A; French Parkinson's Disease Genetics Study Group. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med. 2006 Jan 26;354(4):422-3. doi: 10.1056/NEJMc055540. No abstract available.
- Mata IF, Wedemeyer WJ, Farrer MJ, Taylor JP, Gallo KA. LRRK2 in Parkinson's disease: protein domains and functional insights. Trends Neurosci. 2006 May;29(5):286-93. doi: 10.1016/j.tins.2006.03.006. Epub 2006 Apr 17.
- Ozelius LJ, Senthil G, Saunders-Pullman R, Ohmann E, Deligtisch A, Tagliati M, Hunt AL, Klein C, Henick B, Hailpern SM, Lipton RB, Soto-Valencia J, Risch N, Bressman SB. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med. 2006 Jan 26;354(4):424-5. doi: 10.1056/NEJMc055509. No abstract available.
- Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilarino-Guell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol. 2011 Oct;10(10):898-908. doi: 10.1016/S1474-4422(11)70175-2. Epub 2011 Aug 30.
- Smith WW, Pei Z, Jiang H, Moore DJ, Liang Y, West AB, Dawson VL, Dawson TM, Ross CA. Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration. Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18676-81. doi: 10.1073/pnas.0508052102. Epub 2005 Dec 13.
- Tan EK, Zhao Y, Skipper L, Tan MG, Di Fonzo A, Sun L, Fook-Chong S, Tang S, Chua E, Yuen Y, Tan L, Pavanni R, Wong MC, Kolatkar P, Lu CS, Bonifati V, Liu JJ. The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence. Hum Genet. 2007 Feb;120(6):857-63. doi: 10.1007/s00439-006-0268-0. Epub 2006 Sep 30.
- West AB, Moore DJ, Biskup S, Bugayenko A, Smith WW, Ross CA, Dawson VL, Dawson TM. Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc Natl Acad Sci U S A. 2005 Nov 15;102(46):16842-7. doi: 10.1073/pnas.0507360102. Epub 2005 Nov 3.
- Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Muller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron. 2004 Nov 18;44(4):601-7. doi: 10.1016/j.neuron.2004.11.005.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.