PTEN induced kinase 1
Zuletzt aktualisiert 17 Jul 2023
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Der PINK1 gene provides instructions for making a protein called PTEN induced putative kinase 1. This protein is found in cells throughout the body, with highest levels in the heart, muscles, and testes. Within cells, the protein is located in the mitochondria, the energy-producing centers that provide power for cellular activities. The function of PTEN induced putative kinase 1 is not fully understood. It appears to help protect mitochondria from malfunctioning during periods of cellular stress, such as unusually high energy demands.
Normal function
Der PINK1 gene provides instructions for making a protein called PTEN induced putative kinase 1. This protein is found in cells throughout the body, with highest levels in the heart, muscles, and testes. Within cells, the protein is located in the mitochondria, the energy-producing centers that provide power for cellular activities. The function of PTEN induced putative kinase 1 is not fully understood. It appears to help protect mitochondria from malfunctioning during periods of cellular stress, such as unusually high energy demands.
Researchers believe that two specialized regions of PTEN induced putative kinase 1 are essential for the protein to function properly. One region, called the mitochondrial-targeting motif, serves as a delivery address: after the protein is made, this motif helps ensure that it is delivered to the mitochondria. Another region, called the kinase domain, probably carries out the protein's protective function.
Conditions referring to this gene or chromosome
Other names
BRPK
PARK6
PINK1_HUMAN
PTEN induced putative kinase 1
Related patient information and medicines
Patient information leaflet
BRCA-Gene
Other gene mutations that increase the risk of breast cancer include: TP53 mutation: most women with this mutation develop breast cancer by 50 years of age. TP53 is also associated with other cancers, including leukaemias and brain tumours. Das PTEN-Gen erhöht das Risiko für Brust-, Schilddrüsen- und Gebärmutterkrebs. ATM, CHEK2, BRIP1, and PALB2.
Patient information leaflet
Glykogenspeicherkrankheiten
Glykogenspeicherkrankheiten are a group of vererbte 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. Glykogenspeicherkrankheiten are a group of inherited diseases that result from a lack of, or abnormal functioning of,.
Patient information leaflet
Leberfunktionstests
Leberfunktionstests are a set of Bluttests commonly done to check on the health of your liver. Changes in liver function tests give a clue as to whether your liver is under strain, inflamed, infected or diseased, and how badly. Low levels of total protein can sometimes be seen in severe liver disease, in conditions of severe protein loss (such.
Patient information leaflet
Dyshidrosis
Ekzem is a condition causing skin inflammation. Pompholyx is also known as dyshidrotic eczema, dyshidrotic dermatitis or vesicular eczema of the hands and feet. Other names are cheiropompholyx if it affects the hands, or pedo... In some cases it has been shown to be helpful for the treatment of pompholyx. Janus Kinase (JAK) inhibitors : these.
Patient information leaflet
Riesenzellarteriitis
We do know that there are genetic changes in some people which make them more likely to develop giant cell (temporal) arteritis. Who is likely to develop giant cell arteritis (temporal arteritis). Giant cell (temporal) arteritis is uncommon. It mainly affects people over the age of 70 years. It is extremely rare for it to occur in people under the.
Patient information leaflet
Juvenile idiopathische Arthritis
The inflammation causes swelling around the affected joints. So, juvenile idiopathic arthritis (JIA) is a condition in which this inflammation of one or more joints begins in children under the age of 16 years. It lasts for at least six weeks. In most ... Options include: Etanercept Tocilizumab Infliximab Abatacept Adalimumab Tofacitinib is.
Weiterführende Lektüre und Referenzen
- PTEN induced kinase 1; MedlinePlus, National Library of Medicine.
- Abou-Sleiman PM, Muqit MM, Wood NW. Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nat Rev Neurosci. 2006 Mar;7(3):207-19. doi: 10.1038/nrn1868.
- Beilina A, Van Der Brug M, Ahmad R, Kesavapany S, Miller DW, Petsko GA, Cookson MR. Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. Proc Natl Acad Sci U S A. 2005 Apr 19;102(16):5703-8. doi: 10.1073/pnas.0500617102. Epub 2005 Apr 11.
- Chu CT. A pivotal role for PINK1 and autophagy in mitochondrial quality control: implications for Parkinson disease. Hum Mol Genet. 2010 Apr 15;19(R1):R28-37. doi: 10.1093/hmg/ddq143. Epub 2010 Apr 12.
- Clark IE, Dodson MW, Jiang C, Cao JH, Huh JR, Seol JH, Yoo SJ, Hay BA, Guo M. Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature. 2006 Jun 29;441(7097):1162-6. doi: 10.1038/nature04779. Epub 2006 May 3.
- Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol. 2004 Sep;56(3):424-7. doi: 10.1002/ana.20251.
- Ibanez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain. 2006 Mar;129(Pt 3):686-94. doi: 10.1093/brain/awl005. Epub 2006 Jan 9.
- Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat. 2010 Jul;31(7):763-80. doi: 10.1002/humu.21277.
- Park J, Lee SB, Lee S, Kim Y, Song S, Kim S, Bae E, Kim J, Shong M, Kim JM, Chung J. Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature. 2006 Jun 29;441(7097):1157-61. doi: 10.1038/nature04788. Epub 2006 May 3.
- Pogson JH, Ivatt RM, Whitworth AJ. Molecular mechanisms of PINK1-related neurodegeneration. Curr Neurol Neurosci Rep. 2011 Jun;11(3):283-90. doi: 10.1007/s11910-011-0187-x.
- Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol. 2004 Dec;61(12):1898-904. doi: 10.1001/archneur.61.12.1898.
- Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet. 2005 Nov 15;14(22):3477-92. doi: 10.1093/hmg/ddi377. Epub 2005 Oct 5.
- Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science. 2004 May 21;304(5674):1158-60. doi: 10.1126/science.1096284. Epub 2004 Apr 15.
- Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol. 2004 Sep;56(3):336-41. doi: 10.1002/ana.20256.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
17 Jul 2023 | Neueste Version
1 May 2012 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.