Pathway
Nucleotide salvage defects
Defects in APRT and HGPRT lead to synthesis of 2,8-dioxo-adenine and overproduction of uric acid, respectively, associated with kidney damage and other symptoms. Defects in ADA lead to accumulation of (deoxy)adenosine and consequent severe combined immunodeficiency.
REACT:R-HSA-9734207Reactome
What the reference databases state
Statements
3 statements
3 statements · 1 reference database · Subject: Nucleotide salvage defects · Sources: Reactome
- ADA participates in Nucleotide salvage defectsProteinReactome R-HSA-9734207Inferred only
- APRT participates in Nucleotide salvage defectsProteinReactome R-HSA-9734207Inferred only
- HPRT1 participates in Nucleotide salvage defectsProteinReactome R-HSA-9734207Inferred only