Literature associating BUD23 and leukoencephalopathy with vanishing white matter
BUD23 [ENSP00000401191]
Probable 18S rRNA (guanine-N(7))-methyltransferase; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA . Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity . Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity . Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity . Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors . Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements . Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro .
Synonyms: BUD23, BUD23p, hBUD23, B3KR83, E9PCQ7 ...