DISEASES

Disease-gene associations mined from literature

Literature associating NUDT15 and alopecia

NUDT15 [ENSP00000258662]

Nucleoside diphosphate-linked to another moiety X hydrolase 15; May catalyze the hydrolysis of nucleoside triphosphates including dGTP, dTTP, dCTP, their oxidized forms like 8-oxo-dGTP and the prodrug thiopurine derivatives 6-thio-dGTP and 6-thio-GTP. Could also catalyze the hydrolysis of some nucleoside diphosphate derivatives. Hydrolyzes oxidized nucleosides triphosphates like 8-oxo-dGTP in vitro, but the specificity and efficiency towards these substrates are low. Therefore, the potential in vivo sanitizing role of this enzyme, that would consist in removing oxidatively damaged forms of nucleosides to prevent their incorporation into DNA, is unclear. Through the hydrolysis of thioguanosine triphosphates may participate in the catabolism of thiopurine drugs. May also have a role in DNA synthesis and cell cycle progression by stabilizing PCNA; Belongs to the Nudix hydrolase family.

Synonyms:  NUDT15,  NUDT15p,  hNUDT15,  Q9NV35,  MTH2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM