DNA (cytosine-5)-methyltransferase 3A (DNMT3A) is an enzyme that catalyzes the transfer of methyl groups to specific CpG structures in DNA, a process called DNA methylation. The enzyme is encoded in humans by the DNMT3A gene .

2024年12月24日 · DNMT3A (DNA Methyltransferase 3 Alpha) is a Protein Coding gene. Diseases associated with DNMT3A include Tatton-Brown-Rahman Syndrome and Heyn-Sproul-Jackson Syndrome. Among its related pathways are RNA Polymerase I Promoter Opening and Transport of the SLBP independent Mature mRNA.

The 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.

DNMT3A is a methyltransferase enzyme that catalyzes the transfer of methyl groups to cytosines in CpG dinucleotides of DNA. Hence, DNMT3A is an important component for efficient maintenance of methylation of active chromosome domains [57]. DNMT3A mutation occurs at low frequency in MDS with preponderance at older age.

2025年3月8日 · Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation.

2010年12月16日 · Using massively parallel DNA sequencing, we identified a somatic mutation in DNMT3A, encoding a DNA methyltransferase, in the genome of cells from a patient with AML with a normal karyotype. We...

Profiling of DNMT3A variants revealed a large portion with dramatic loss of DNA methyltransferase activity and protein stability, which enabled the risk stratifi cation of malignancy development and revealed a molecular mechanism of regulated DNMT3A turnover.

DNMT3A (DNA (cytosine-5-)-methyltransferase 3 alpha) gene encodes the DNA (cytosine-5)-methyltransferase 3A protein, which is involved in epigenetic gene regulation (Gene 2013; PMID: 17938196). DNMT3A is most frequently mutated in hematologic malignancies, but it has also been observed in other cancers, including lung cancer ( PMID: 23031157 ).

2022年3月4日 · Very recently, novel roles of DNMT3A in mammalian development have been identified. This makes it necessary for us to re-assess each member of the DNMT3 family individually. Thus, this review focuses on DNMT3A, a unique member of the DNMT3 family that establishes DNA methylation patterns de novo.

2015年2月19日 · DNA methyltransferase 3A (DNMT3A) belongs to a family of highly conserved DNA methyltransferases that catalyse 5-methylcytosine methylation. Regulatory domains of DNMT3A allow interactions...