Human DNA (cytosine-5)-methyltransferase 3B (DNMT3B) ELISA Kit

DNMT3B, is a protein associated with immunodeficiency, centromere instability and facial anomalies syndrome. 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.

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SPECIFICATIONS

Catalog Number

KTE61992

Size

48T, 96T, 96T*5, 96T*50

Applications

ELISA

Reactivities

Hum

Gene Id

1789

Accession

Q9UBC3

Additional Info

Human DNA (cytosine-5)-methyltransferase 3B (DNMT3B) ELISA Kit has high sensitivity and excellent specificity for detection of Human DNMT3B. No significant cross-reactivity or interference between Human DNMT3B and analogues was observed.