phosphatase and tensin homolog
Última actualización 8 de mayo de 2023
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
The PTEN gene provides instructions for making an enzyme that is found in almost all tissues in the body. The enzyme acts as a tumour suppressor, which means that it helps regulate cell division by keeping cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. To function, the PTEN enzyme attaches (binds) to another PTEN enzyme (dimerizes) then binds to the cell membrane. The PTEN enzyme modifies other proteins and fats (lipids) by removing phosphate groups, each of which consists of a cluster of oxygen and phosphorus atoms. Enzymes with this function are called phosphatases.
Normal function
The PTEN gene provides instructions for making an enzyme that is found in almost all tissues in the body. The enzyme acts as a tumour suppressor, which means that it helps regulate cell division by keeping cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. To function, the PTEN enzyme attaches (binds) to another PTEN enzyme (dimerizes) then binds to the cell membrane. The PTEN enzyme modifies other proteins and fats (lipids) by removing phosphate groups, each of which consists of a cluster of oxygen and phosphorus atoms. Enzymes with this function are called phosphatases.
The PTEN enzyme is part of a chemical pathway that signals cells to stop dividing and triggers cells to self-destruct through a process called apoptosis. Evidence suggests that this enzyme also helps control cell movement (migration), the sticking (adhesion) of cells to surrounding tissues, and the formation of new blood vessels (angiogenesis). Additionally, it likely plays a role in maintaining the stability of a cell's genetic information. All of these functions help prevent uncontrolled cell proliferation that can lead to the formation of tumours.
Conditions referring to this gene or chromosome
Otros nombres
MMAC1
mutated in multiple advanced cancers 1
phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
phosphatase and tensin homolog deleted on chromosome 10
protein-tyrosine phosphatase PTEN
PTEN-MMAC1 protein
PTEN1
PTEN_HUMAN
TEP1
TEP1 phosphatase
Related patient information and medicines
Patient information leaflet
Pruebas de función hepática
In chronic liver disease, a rise in GGT suggests bile duct damage and scarring. What does an abnormal alkaline phosphatase level mean. Alkaline phosphatase (ALP) comes mainly from the cells lining bile ducts and from bones - particularly growing bones. It rises if there is slow or blocked flow in the bile ducts, if the bile ducts are damaged and.
Patient information leaflet
Verifica las interacciones de tus medicamentos
Use this verificador de interacciones entre medicamentos y drogas a see whether tu medicines, supplements, vitamins, foods, or certain health conditions may interact with each other. It can help you understand potential risks, avoid unwanted side effects, and decide when it’s important to speak to a pharmacist, GP, or other healthcare professional. The tool is.
Patient information leaflet
Enfermedad ósea de Paget
Paget's disease of bone affects the structure of parts of one or more bones. In most cases it causes no symptoms and does not need treatment. Bone cancer Rarely, abnor... Blood tests. A chemical in the blood called alkaline phosphatase can be measured in a blood sample. Levels rise with increasing bone turnover. The level of alkaline phosphatase.
Patient information leaflet
Cáncer testicular
Testicular cancer is a cancer that arises from a testicle (testis). Around half of all cases occur in men aged under 35 but testicular cancer rarely occurs before puberty. Another useful test i... The tumour markers commonly tested for are alfa-fetoproteína (AFP), beta human chorionic gonadotrophin (beta-hCG), lactic dehydrogenase (LDH) and.
Patient information leaflet
Trastornos del almacenamiento de glucógeno
Type IX (liver phosphorylase kinase deficiency). Type XI (Fanconi-Bickel syndrome). About one quarter of people who have glycogen storage disorder have type I. It is due to a lack of the enzyme known as glucose-6-phosphatase. Type VIII and type X are now classified with type VI. Who gets glycogen storage disorders. It is estimated that about one.
Patient information leaflet
Pérdida del gusto y el olfato
Taste and smell are often referred to as a pair because they are closely interlinked. The majority of what we think is our taste sensation is actually from our sense of smell. We don't think of ourselves as being particularly good at sniffing things out, especially when compared with other mammals such as dogs. But research has shown that smell.
Lecturas adicionales y referencias
- phosphatase and tensin homolog; MedlinePlus, National Library of Medicine.
- Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F; French Cowden Disease Network. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013 Apr;50(4):255-63. doi: 10.1136/jmedgenet-2012-101339. Epub 2013 Jan 18.
- Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet. 2005 Apr;42(4):318-21. doi: 10.1136/jmg.2004.024646.
- He X, Ni Y, Wang Y, Romigh T, Eng C. Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53. Hum Mol Genet. 2011 Jan 1;20(1):80-9. doi: 10.1093/hmg/ddq434. Epub 2010 Oct 6.
- Kechagioglou P, Papi RM, Provatopoulou X, Kalogera E, Papadimitriou E, Grigoropoulos P, Nonni A, Zografos G, Kyriakidis DA, Gounaris A. Tumor suppressor PTEN in breast cancer: heterozygosity, mutations and protein expression. Anticancer Res. 2014 Mar;34(3):1387-400.
- National Cancer Institute: Genetics of Breast and Gynecologic Cancers (PDQ®)–Health Professional Version
- Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013 Nov 6;105(21):1607-16. doi: 10.1093/jnci/djt277. Epub 2013 Oct 17.
- Song MS, Salmena L, Pandolfi PP. The functions and regulation of the PTEN tumour suppressor. Nat Rev Mol Cell Biol. 2012 Apr 4;13(5):283-96. doi: 10.1038/nrm3330.
- Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012 Jan 15;18(2):400-7. doi: 10.1158/1078-0432.CCR-11-2283.
- Tilot AK, Frazier TW 2nd, Eng C. Balancing Proliferation and Connectivity in PTEN-associated Autism Spectrum Disorder. Neurotherapeutics. 2015 Jul;12(3):609-19. doi: 10.1007/s13311-015-0356-8.
- Tramontana T, Yehia L. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [updated 2026 Jul 28]. 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/NBK1488/
- Yehia L, Eng C. 65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine. Endocr Relat Cancer. 2018 Aug;25(8):T121-T140. doi: 10.1530/ERC-18-0162. Epub 2018 May 23.
- Yehia L, Eng C. PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation? Hum Mol Genet. 2020 Oct 20;29(R2):R150-R157. doi: 10.1093/hmg/ddaa127.
- Yehia L, Keel E, Eng C. The Clinical Spectrum of PTEN Mutations. Annu Rev Med. 2020 Jan 27;71:103-116. doi: 10.1146/annurev-med-052218-125823. Epub 2019 Aug 21.
- Yehia L, Ngeow J, Eng C. PTEN-opathies: from biological insights to evidence-based precision medicine. J Clin Invest. 2019 Feb 1;129(2):452-464. doi: 10.1172/JCI121277. Epub 2019 Jan 7.
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.