Target intelligence / Profile preview

DNA (cytosine-5)-methyltransferase 3B (DNMT3B)

Target
DNMT3B
Molecular classification
Enzyme, DNA methyltransferase
01

Overview

DNMT3B is a DNA methyltransferase enzyme responsible for establishing new DNA methylation patterns during embryonic development. It plays a critical role in normal mammalian development, genomic imprinting, X-chromosome inactivation, and regulation of gene expression. Mutations in DNMT3B are associated with immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) and have been implicated in cancer and other developmental disorders.

Other names
DNA methyltransferase 3B
02

Mechanism of action

Catalyzes the transfer of a methyl group to the 5-position of cytosine residues in DNA at CpG dinucleotides, leading to transcriptional repression.

03

Biological functions

DNA methylationDe novo methylationEpigenetic regulationTranscriptional repressionGenomic imprintingX-chromosome inactivationRegulation of gene expressionMaintenance of genome stability
04

Disease associations

Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF)CancerNeurodevelopmental disordersNicotine dependencyDevelopmental disorders
05

Safety considerations

Dysregulation can lead to aberrant DNA methylation patterns and contribute to various diseases.

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