Synonyms:BUD23 rRNA methyltransferase and ribosome maturation factor, BUD23, ENTREZ:114049, HASJ4442, HGNC:16405, HUSSY-3, MERM1, MIM:615733, NM_001202560, NM_017528, NP_001189489, NP_059998, NR_037776, NR_045512, PP3381, WBMT, WBSCR22, XM_006715847, XM_011515778, XM_011515779, XP_006715910, XP_011514080, XP_011514081, XR_002956407
Omim:OMIM:615733
Id:ENSG00000071462
Hgnc:HGNC:16405
Description:BUD23 rRNA methyltransferase and ribosome maturation factor
This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]