DNA (cytosine-5)-methyltransferase 3 beta, is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecule ...
that in humans in encoded by the DNMT3B
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Mutation in this gene are 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. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.
Clinical significance
Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a result of defects in
lymphocyte maturation resulting from aberrant DNA methylation caused by mutations in the DNMT3B gene.
Variants of the gene can also contribute to
nicotine dependency
Nicotine is a natural product, naturally produced alkaloid in the nightshade family of plants (most predominantly in tobacco and ''Duboisia hopwoodii'') and is widely used recreational drug use, recreationally as a stimulant and anxiolytic. As ...
.
Interactions
DNMT3B has been shown to
interact with:
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CBX5,
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DNMT1,
[
* SMC2,][
* ]SUMO1
Small ubiquitin-related modifier 1 is a protein that in humans is encoded by the ''SUMO1'' gene.
Function
This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It is a ubiquitin-like protein an ...
[
]
References
Further reading
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External links
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{{One carbon transferases