Dnmt3b Polyclonal Antibody

catalytic activity:S-adenosyl-L-methionine + DNA = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine.,disease:Defects in DNMT3B are a cause of immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) [MIM:242860]. ICF is a rare autosomal recessive disorder characterized by a variable immunodeficiency, mild facial anomalies, and centromeric heterochromatin instability involving chromosomes 1, 9, and 16. ICF is biochemically characterized by hypomethylation of CpG sites in some regions of heterochromatin.,function:Required for genome wide de novo methylation and is essential for development. DNA methylation is coordinated with methylation of histones. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs.,online information:DNMT3B mutation db,PTM:Sumoylated.,similarity:Belongs to the C5-methyltransferase family.,similarity:Contains 1 ADD-type zinc finger.,similarity:Contains 1 PWWP domain.,subunit:Interacts with SUV39H1 (By similarity). Interacts with SETDB1, UBL1 and UBE2I9. Interacts with DNMT1 and DNMT3A. Interacts with the PRC2/EED-EZH2 complex.,tissue specificity:Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. Isoform 1 is expressed in all tissues except brain, skeletal muscle and PBMC, 3 is ubiquitous, 4 is expressed in all tissues except brain, skeletal muscle, lung and prostate and 5 is detectable only in testis and at very low level in brain and prostate.,