[5] Mutation in this gene are associated with immunodeficiency, centromere instability and facial anomalies syndrome.

[6] 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.

The protein localizes primarily to the nucleus and its expression is developmentally regulated.

[5] Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a result of defects in lymphocyte maturation resulting from aberrant DNA methylation caused by mutations in the DNMT3B gene.