Adenine phosphoribosyltransferase
Function
Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Involvement in disease
Adenine phosphoribosyltransferase deficiency
APRTD
An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1.
Sequence Similarities
Belongs to the purine/pyrimidine phosphoribosyltransferase family.
Cellular localization
- Cytoplasm
Alternative names
Adenine phosphoribosyltransferase, APRT