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NSUN5 is a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms.
Gene Name: | NOP2/Sun domain family, member 5 |
Synonyms: | NSUN5, p120, NOL1-related protein, NOL1R, WBSCR20, Ynl022cL, NOL1, NSUN5A, WBSCR20A |
Target Sequences: | NM_018044 NP_060514.1 Q96P11 |
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