BUD23 Chromosome 7
BUD23 rRNA methyltransferase and ribosome maturation factor
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What This Gene Does
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]
Gene Info
Gene Group
"Ribosomal biogenesis factors|7BS N7-guanosine RNA methyltransferases|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000071462
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148529785 | Health Risk | Conflicting classifications of pathogenicity | — |