APRT Antibody – Rabbit Polyclonal

Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. 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. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

APRT: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis. Defects in APRT are the cause of adenine phosphoribosyltransferase deficiency (APRTD); 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. Belongs to the purine/pyrimidine phosphoribosyltransferase family.

Protein type: EC 2.4.2.7; Transferase; Nucleotide Metabolism - purine

Chromosomal Location of Human Ortholog: 16q24

Cellular Component: cytoplasm; cytosol; nucleoplasm

Molecular Function: adenine binding; adenine phosphoribosyltransferase activity; AMP binding

Biological Process: adenine salvage; cellular response to insulin stimulus; grooming behavior; lactation; nucleobase, nucleoside and nucleotide metabolic process; purine base metabolic process; purine salvage

Disease: Adenine Phosphoribosyltransferase Deficiency