Synonyms:ENTREZ:55695, HGNC:16385, MIM:615732, NM_001168347, NM_001168348, NM_018044, NM_148956, NOL1, NOL1R, NOP2/Sun RNA methyltransferase 5, NP_001161819, NP_001161820, NP_060514, NP_683759, NSUN5, NSUN5A, WBSCR20, WBSCR20A, XM_005277604, XP_005277661, XR_242255, p120, p120(NOL1)
Omim:OMIM:615732
Id:f51870f6-1bf9-5747-a3d7-ac000429c0a1
Hgnc:HGNC:16385
Description:NOP2/Sun RNA methyltransferase 5
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]