LP265695-9
DNMT3A gene
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Descriptions
The DNMT3A (DNA methyltransferase 3 alpha) gene [HGNC Gene ID:2978] is located on chromosome 2 at 2p23.3. 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] [NCBI Gene ID:1788] Source: National Center for Biotechnology Information (NCBI) Gene
The DNMT3A gene encodes the DNA methyltransferase 3 alpha enzyme involved in establishing DNA methylation patterns during embryogenesis and cellular growth and differentiation. Mutations in the DNMT3A gene are associated with DNMT3A overgrowth syndrome, characterized by pre- and postnatal increased growth, intellectual disability and a distinctive, syndrome-specific facial appearance. PMID: 24614070 Somatic mutations in this gene are associated with a wide variety of hematologic malignancies, including acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPNs), and chronic myelomonocytic leukemia (CMML). The somatic mutations disrupt the normal pattern of methylation in cells, blocking cellular differentiation. PMID: 26072070[MedlinePlus Gene:DNMT3A] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- DNMT3A gene
- Part Display Name
- DNMT3A gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-01-05
- Construct for LOINC Short Name
- DNMT3A gene
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| nl-NL | Dutch (Netherlands) | DNMT3A-gen |
| zh-CN | Chinese (China) | DNMT3A 基因 |
| it-IT | Italian (Italy) | DNMT3A, gene Synonyms: Gene DNMT3A |
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