機能Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
パスウェイPurine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1.
関連疾患Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]; also known as 2,8-dihydroxyadenine urolithiasis. An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.
配列類似性Belongs to the purine/pyrimidine phosphoribosyltransferase family.