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PA1-9542 detects DNMT3L in human samples.
PA1-9542 has been successfully used in Western blot procedures. By Western blot, PA1-9542 detects a 47 kDa protein representing DNMT3L.
PA1-9542 immunogen is a purified recombinant DNMT3L.1 corresponding to the chromosome 21 gene (Human).
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. Six alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DNA (cytosine-5)-methyltransferase 3B; DNA (cytosine-5-)-methyltransferase 3 beta; DNA methyltransferase HsaIIIB; DNA MTase HsaIIIB; Dnmt3; Dnmt3b; m.MmuIIIB; MGC1090
Gene Aliases: DNMT3B; ICF; ICF1; M.HsaIIIB
UniProt ID: (Human) Q9UBC3
Entrez Gene ID: (Human) 1789
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