DNMT3B
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). DNA (cytosine-5-)-methyltransferase 3 beta, also known as DNMT3B, is a protein associated with immunodeficiency, centromere instability and facial anomalies syndrome.
Function
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.[1]
Interactions
DNMT3B has been shown to interact with:
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References
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Further reading
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External links
- DNMT3b at the US National Library of Medicine Medical Subject Headings (MeSH)
- EC 2.1.1.37
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