BUD23

Chr 7

BUD23 rRNA methyltransferase and ribosome maturation factor

Also known as: HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, WBSCR22

NCBI Gene: 114049 ENSG00000071462 UniProt: O43709 OMIM: 615733

This gene encodes a methyltransferase that methylates 18S ribosomal RNA and is essential for ribosome biogenesis and nuclear export of the 40S ribosomal subunit. BUD23 is deleted in Williams syndrome, a multisystem developmental disorder caused by contiguous gene deletions at chromosome 7q11.23. The gene shows high constraint against loss-of-function variants (pLI ~1.0, LOEUF 0.736), indicating that heterozygous loss is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.74

LOEUF

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Mechanism