| Modification Notes |
NUDT15 (nudix (nucleoside diphosphate linked moiety X)-type motif 15), also known as MTH2, is a 164 amino acid protein that belongs to the nudix hydrolase family and uses magnesium as a cofactor to catalyze the conversion of 8-oxo-dGTP to 8-oxo-dGMP and diphosphate. Via its catalytic activity, NUDT15 mediates the hydrolysis of select nucleoside diphosphate derivatives and may play a role in the prevention of DNA transversions. The gene encoding NUDT15 maps to human chromosome 13, which houses over 400 genes, such as BRCA2 and RB1, and comprises nearly 4% of the human genome. As with most chromosomes, polysomy of part or all of chromosome 13 is deleterious to development and decreases the odds of survival. Trisomy 13, also known as Patau syndrome, is deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections. |