NSUN5 is a member of the evolutionarily conserved NOL1/NOP2/Sun domain family. The encoded protein may function as a DNA methyltransferase in the nucleus. The 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 multiple transcript variants encoding different isoforms.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: FLJ10267; MGC986; NOL1-related protein; NOL1/NOP2/Sun domain family member 5; NOL1/NOP2/Sun domain family, member 5; NOL1R; NOP2/Sun domain family, member 5; NOP2/Sun domain family, member 5A; Probable 28S rRNA (cytosine-C(5))-methyltransferase; putative methyltransferase NSUN5; Williams Beuren syndrome chromosome region 20A; Williams Beuren syndrome chromosome region 20A homolog; Williams-Beuren syndrome chromosomal region 20A protein; Williams-Beuren syndrome chromosomal region 20A protein homolog; Williams-Beuren syndrome critical region protein 20; Williams-Beuren syndrome critical region protein 20 copy A
Gene Aliases: 9830109N13Rik; AI326939; NOL1; NOL1R; NSUN5; NSUN5A; p120; p120(NOL1); RGD1309268; WBSCR20; WBSCR20A