NSUN2
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). NOP2/Sun domain family, member 2 is a protein that in humans is encoded by the NSUN2 gene.[1] Alternatively spliced transcript variants encoding different isoforms have been noted for the gene.
Function
[edit | edit source]The protein is a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA (Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA.[1] NSUN2 is also localized on mitochondria and is capable of introducing post-transcriptional modifications in mitochondrial tRNAs.[2][3]
Clinical relevance
[edit | edit source]Mutations in this gene have been found associated to cases of Dubowitz-like syndrome.[4]
References
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Further reading
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