Entrez 114049 | Ensembl ENSG00000071462 | |
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Aliases WBSCR22, HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, Williams-Beuren syndrome chromosome region 22 External IDs MGI: 1913388 HomoloGene: 5486 GeneCards: WBSCR22 |
Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene.
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.
References
WBSCR22 Wikipedia(Text) CC BY-SA