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DNA (cytosine-5)-methyltransferase 1 (DNMT1)

Target: DNMT1
Molecular classification: Enzyme, DNA methyltransferase

Overview

DNA (cytosine-5)-methyltransferase 1 (DNMT1) is a key enzyme responsible for the maintenance of DNA methylation patterns in mammalian cells. It catalyzes the transfer of methyl groups to cytosine residues within CpG dinucleotides, primarily acting on hemimethylated DNA during DNA replication. It plays critical roles in gene silencing, embryonic development, carcinogenesis and regulation of neuron maturation, migration, connectivity, and survival in the adult nervous system. Aberrant activity or mutations are associated with developmental abnormalities and various cancers due to epigenetic dysregulation.

Mechanism of action

Inhibition of DNA methylation

Biological functions

Epigenetic inheritanceGene silencingEmbryonic developmentDNA methylation maintenanceRegulation of neuron maturationRegulation of neuron migrationRegulation of neuron connectivityRegulation of neuron survival

Disease associations

CarcinogenesisCancerNeurological disordersHereditary sensory neuropathy type IE (HSAN IE)Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome (ADCADN)

Safety considerations

Potential for off-target effects due to global changes in DNA methylationDevelopmental abnormalitiesTumorigenesis

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