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 which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.
Aliases ： ICF; ICF1; M.HsaIIIB
Entrez GeneID： 1789
Swissprot： Q9UBC3
WB Predicted band size： 95.8kDa
Host/Isotype ： Mouse IgG2a
Species Reactivity： Human
Immunogen： Purified recombinant fragment of human DNMT3B (AA: 1-150) expressed in E. Coli.
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