BUD23, Official Symbol BUD23provided by HGNC Official Full Name BUD23 rRNA methyltransferase and ribosome maturation factorprovided by HGNC Primary source HGNC:HGNC:16405 See related Ensembl:ENSG00000071462 MIM:615733; AllianceGenome:HGNC:16405 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WBMT; MERM1; PP3381; HUSSY-3; WBSCR22; HASJ4442 Summary 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] Expression Ubiquitous expression in testis (RPKM 63.4), thyroid (RPKM 24.2) and 25 other tissues See more Orthologs mouse all