DISEASES

Disease-gene associations mined from literature

Literature associating UPP2 and atrial heart septal defect 6

UPP2 [ENSP00000474090]

Uridine phosphorylase 2; Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. Shows substrate specificity and accept uridine, deoxyuridine, and thymidine as well as the two pyrimidine nucleoside analogs 5-fluorouridine and 5- fluoro-2(')-deoxyuridine as substrates.

Synonyms:  UPP2,  UPP2p,  hUPP2,  A0A0S2Z634,  O95045 ...

Linkouts:  STRING  Pharos  UniProt