Molecular Classification
Enzyme, DNA methyltransferase
Disease Roles
Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF syndrome)CancerNicotine dependency

DNA methyltransferase 3B Overview

DNA methyltransferase 3B (DNMT3B) is an enzyme that functions as a de novo DNA methyltransferase, establishing new patterns of DNA methylation during development. It is crucial for regulating gene expression, preventing spurious transcription, and influencing alternative exon inclusion. Mutations or deficiencies in DNMT3B are causative for immunodeficiency-centromeric instability-facial anomalies syndrome (ICF syndrome). Aberrant activity or mutation-induced dysfunctions of DNMT3B also play roles in cancer progression.

Mechanism of Action

Catalyzes the transfer of a methyl group from S-Adenosyl-L-methionine (SAM) to cytosine residues within CpG sites on double-stranded DNA, resulting in 5-methylcytosine formation.

Biological Functions

DNA methylation
Epigenetic regulation
Transcriptional regulation
Genome stability
De novo methylation

Disease Associations

Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF syndrome)
Cancer
Nicotine dependency

Safety Considerations

  • Aberrant activity can lead to oncogene activation or tumor suppressor silencing.
  • Demethylating agents may have context-specific effects depending on the epigenetic landscape.

Interacting Drugs

Demethylating agents