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Literature summary extracted from

  • Delos Santos, K.; Kim, M.; Yergeau, C.; Jean, S.; Moon, N.S.
    Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis (2019), PLoS Genet., 15, e1008376 .
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
2.7.6.1 medicine mutations Q165P and R228W mimick missense mutations identified in neurological disorders such as Arts syndrome. Mutant flies are able to develop normally, but have a shortened lifespan and locomotive defects. Patient-derived PRPS mutations result in profound defects in lipolysis, macroautophagy, and lysosome function. The nervous system of these mutant flies is affected by these defects Drosophila melanogaster

Protein Variants

EC Number Protein Variants Comment Organism
2.7.6.1 Q165P mimicks missense mutations identified in human neurological disorders such as Arts syndrome Drosophila melanogaster
2.7.6.1 R228W mimicks missense mutations identified in human neurological disorders such as Arts syndrome Drosophila melanogaster

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining

Organism

EC Number Organism UniProt Comment Textmining
2.7.6.1 Drosophila melanogaster Q9VT33
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General Information

EC Number General Information Comment Organism
2.7.6.1 physiological function PRPS is a direct target of retinoblastoma RB/E2F transcription factor in Drosophila melanogaster Drosophila melanogaster