Reactivities: | Human |
Presku: | AAP67703 |
Size: | 100ug |
Weight: | 50kDa |
Gene: | 55695 |
Format: | Lyophilized powder |
Target: | This gene encodes a member of the evolutionarily conserved NOL1/NOP2/Sun domain family. The encoded protein may function as a DNA methyltransferase in the nucleus. 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 multiple transcript variants encoding different isoforms. |
Alternative names: | FLJ10267; MGC986; NOL1; NOL1R; NSUN5A; WBSCR20; WBSCR20A; p120 |