NOP2/Sun RNA methyltransferase family member 5
Alias
NOL1 | NOL1R | NSUN5A | WBSCR20 | WBSCR20A | p120 | p120(NOL1)
This gene encodes 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. [provided by RefSeq, Jul 2013].