反应种属
Human;Chicken(testedbyourcustomer）
蛋白名称
DNA (cytosine-5)-methyltransferase 3B
免疫原
The antiserum was produced against synthesized peptide derived from human DNMT3B. AA range:1-50
特异性
Dnmt3b Monoclonal Antibody detects endogenous levels of Dnmt3b protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
稀释比例
Western Blot: 1/500 - 1/2000
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
DNMT3B; DNA (cytosine-5)-methyltransferase 3B; Dnmt3b; DNA methyltransferase HsaIIIB; DNA MTase HsaIIIB; M.HsaIIIB
背景
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. [provided by RefSeq, May 2011],
功能
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.
