Gene Symbol | DNMT3A |
Entrez Gene ID | 1788 |
Full Name | DNA methyltransferase 3 alpha |
Synonyms | DNMT3A2,M.HsaIIIA,TBRS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. 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. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]. |
Disorder MIM: | |
Disorder Html: | Tatton-Brown-Rahman syndrome, 615879 (3) |