DNA methyltransferase 3 alpha
Ultimo aggiornamento 10 Apr 2023
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L DNMT3A gene provides instructions for making an enzyme called DNA methyltransferase 3 alpha. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines.
Normal function
L DNMT3A gene provides instructions for making an enzyme called DNA methyltransferase 3 alpha. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines.
DNA methylation is important in many cellular functions. These include determining whether the instructions in a particular segment of DNA are carried out or suppressed (gene silencing), regulating reactions involving proteins and fats, and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters). DNA methyltransferase 3 alpha is particularly important for establishing DNA methylation patterns during development before birth. The enzyme also functions in early cells that can give rise to more mature cell types. In early blood cells, called hematopoietic stem cells, the methylation patterns established by DNA methyltransferase 3 alpha promote maturation (differentiation) into different blood cell types.
Conditions referring to this gene or chromosome
Altri nomi
DNA (cytosine-5)-methyltransferase 3A
DNA (cytosine-5-)-methyltransferase 3 alpha
DNA cytosine methyltransferase 3A2
DNA MTase HsaIIIA
DNM3A_HUMAN
DNMT3A2
M.HsaIIIA
Related patient information and medicines
Patient information leaflet
Test genetici
Test genetici is a type of medical test that identifies changes in chromosomes, genes or proteins. Genetic tests examine a person's DNA in a variety of ways to assess a person's genetic health. They are all designed to identify a particular gene that may cause a genetic disorder. We all have 46 chromosomes in our cells. Chromosomes are made from.
Patient information leaflet
Malattia di Parkinson
Stadi della malattia di Parkinson Non ci sono 5 stages of Parkinson's disease, according to the severity of the symptoms: Stage 1 : the earliest stage. Features include mild tremors and mild difficulty with walking. There may also be less facial expressions, but the ... Sometimes these medicines are used in combination with levodopa in the later stages of.
Patient information leaflet
Distrofia muscolare
What is muscular dystrophy. Muscular dystrophy (MD) è dello name given per a group of disorders which cause progressive muscle weakness (meaning it gets worse over time). There are many different types of MD. The different types vary... What causes muscular dystrophy. The cause is an abnormal or 'faulty' gene. Genes are made from a biological.
Patient information leaflet
Test di funzionalità epatica
Tempo di protrombina o Rapporto Internazionale Normalizzato (INR). Each of these is discussed below. The liver performs hundreds of different functions, so there are many other possible tests that look at its health. These would normally be done if an abnormality is found with the basic liver function tests described here, or if a specific problem is.
Patient information leaflet
Macrocitosi e anemia macrocitica
Macrocytosis refers to red blood cells which are larger than normal. It does not cause any symptoms in itself. Macrocytosis symptoms You may also find relevant information in our other separate leaflet called What is ... Other blood disorders including myeloid leukaemia , aplastic anaemia (a condition affecting the bone marrow) and some other rare.
Patient information leaflet
Deficit di alfa-1 antitripsina
Deficit di alfa-1 antitripsina is an inherited genetic condition. A genetic condition is one that can be passed on from parents through genes. In alpha-1 antitrypsin defic... A genetic condition is one that can be passed on from parents through genes. It was first described in 1963 by Dr Sten Eriksson, a Danish doctor. In the centre (nucleus) of.
Ulteriori letture e riferimenti
- DNA methyltransferase 3 alpha; MedlinePlus, National Library of Medicine.
- Challen GA, Sun D, Jeong M, Luo M, Jelinek J, Berg JS, Bock C, Vasanthakumar A, Gu H, Xi Y, Liang S, Lu Y, Darlington GJ, Meissner A, Issa JP, Godley LA, Li W, Goodell MA. Dnmt3a is essential for hematopoietic stem cell differentiation. Nat Genet. 2011 Dec 4;44(1):23-31. doi: 10.1038/ng.1009.
- Chedin F. The DNMT3 family of mammalian de novo DNA methyltransferases. Prog Mol Biol Transl Sci. 2011;101:255-85. doi: 10.1016/B978-0-12-387685-0.00007-X.
- Grossmann V, Haferlach C, Weissmann S, Roller A, Schindela S, Poetzinger F, Stadler K, Bellos F, Kern W, Haferlach T, Schnittger S, Kohlmann A. The molecular profile of adult T-cell acute lymphoblastic leukemia: mutations in RUNX1 and DNMT3A are associated with poor prognosis in T-ALL. Genes Chromosomes Cancer. 2013 Apr;52(4):410-22. doi: 10.1002/gcc.22039. Epub 2013 Jan 23.
- Holz-Schietinger C, Matje DM, Reich NO. Mutations in DNA methyltransferase (DNMT3A) observed in acute myeloid leukemia patients disrupt processive methylation. J Biol Chem. 2012 Sep 7;287(37):30941-51. doi: 10.1074/jbc.M112.366625. Epub 2012 Jun 21.
- Hsieh CL. The de novo methylation activity of Dnmt3a is distinctly different than that of Dnmt1. BMC Biochem. 2005 Mar 30;6:6. doi: 10.1186/1471-2091-6-6.
- Okamoto N, Toribe Y, Shimojima K, Yamamoto T. Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. Am J Med Genet A. 2016 May;170A(5):1339-42. doi: 10.1002/ajmg.a.37588. Epub 2016 Feb 11.
- Okano M, Bell DW, Haber DA, Li E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell. 1999 Oct 29;99(3):247-57. doi: 10.1016/s0092-8674(00)81656-6.
- Ostrowski PJ, Tatton-Brown K. Tatton-Brown-Rahman Syndrome. 2022 Jun 30. 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/NBK581652/
- Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N; Childhood Overgrowth Consortium; van Montfort R, Rahman N. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet. 2014 Apr;46(4):385-8. doi: 10.1038/ng.2917. Epub 2014 Mar 9.
- Xin B, Cruz Marino T, Szekely J, Leblanc J, Cechner K, Sency V, Wensel C, Barabas M, Therriault V, Wang H. Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. Clin Genet. 2017 Apr;91(4):623-628. doi: 10.1111/cge.12878. Epub 2017 Jan 22.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.