Gene Symbol | BUD23 |
Entrez Gene ID | 114049 |
Full Name | BUD23, rRNA methyltransferase and ribosome maturation factor |
Synonyms | HASJ4442,HUSSY-3,MERM1,PP3381,WBMT,WBSCR22 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: |