BUD23
Chr 7BUD23 rRNA methyltransferase and ribosome maturation factor
Also known as: HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, WBSCR22
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.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
257 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 157 | 0 | 157 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 48 | 4 | 0 | 52 |
Likely Benign | 0 | 2 | 0 | 1 | 3 |
Benign | 0 | 0 | 0 | 1 | 1 |
Conflicting | — | 1 | |||
| Total | 0 | 50 | 167 | 2 | 220 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BUD23 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools