This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. There is extensive alternative splicing at this locus. [provided by RefSeq, Jul 2013]
Function:
May have S-adenosyl-L-methionine-dependent methyl-transferase activity.
Tissue Specificity:
Ubiquitous.
DISEASE:
NSUN5C is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Similarity:
Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
SWISS:
Q63ZY6
Gene ID:
260294
Database links:
Entrez Gene: 260294 Human
SwissProt: Q63ZY6 Human
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