Species Human Entrez 55695 | Human Mouse Ensembl ENSG00000130305 | |
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Aliases NSUN5, NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1), NOP2/Sun RNA methyltransferase family member 5 External IDs MGI: 2140844 HomoloGene: 6828 GeneCards: NSUN5 | ||
Putative methyltransferase NSUN5 is an enzyme that in humans is encoded by the NSUN5 gene.
This gene encodes a protein with similarity to p120 (NOL1), a 120-kDa proliferation-associated nucleolar antigen that is a member of an evolutionarily conserved protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene results in two transcript variants encoding different isoforms.
References
NSUN5 Wikipedia(Text) CC BY-SA