Adenine phosphoribosyltransferase - Wikipedia
Adenine phosphoribosyltransferase (APRTase) is an enzyme encoded by the APRT gene, found in humans on chromosome 16. [5] It is part of the Type I PRTase family and is involved in the nucleotide salvage pathway, which provides an alternative to nucleotide biosynthesis de novo in humans and most other animals. [ 6 ]
Adenine Phosphoribosyltransferase Deficiency
2012年8月30日 · Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy) causing acute kidney injury episodes and progressive chronic kidney disease (CKD).
Adenine phosphoribosyltransferase deficiency - MedlinePlus
Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom.
Adenine phosphoribosyltransferase deficiency - Wikipedia
Adenine phosphoribosyltransferase (APRT) catalyzes the creation of pyrophosphate and adenosine monophosphate from 5-phosphoribosyl-1-pyrophosphate and adenine. Adenine phosphoribosyltransferase is a purine salvage enzyme.
Adenine Phosphoribosyltransferase - an overview
Adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) catalyzes the synthesis of adenine monophosphate (AMP) from adenine and 5-phosphoribosyl-1-pyrophosphate (pp-ribose-p) in the salvage pathway for purine nucleotide synthesis.
Adenine Phosphoribosyltransferase Deficiency Due to Novel …
Adenine phosphoribosyltransferase (APRT) deficiency is an autosomal recessive condition that can cause symptoms ranging from recurrent urolithiasis to crystalline nephropathy and may cause irreversible renal damage.
353 - Gene ResultAPRT adenine phosphoribosyltransferase
2024年4月7日 · This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway.
Adenine Phosphoribosyltransferase - an overview
Adenine Phosphoribosyltransferase (APRT) is an enzyme involved in purine metabolism that, when deficient, leads to the accumulation of adenine and the formation of insoluble 2,8-dihydroxyadenine stones in the urine.
Phenotype and Genotype Characterization of Adenine ...
Adenine phosphoribosyltransferase (APRT) is a purine salvage enzyme that catalyzes the formation of 5′-AMP and pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (Figure 1 A).
Adenine phosphoribosyltransferase deficiency - PubMed
Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation of this compound and the formation of urinary crystals and stones.
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