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aprt

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Official Full Name
adenine phosphoribosyltransferase
Background
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.
Synonyms
APRT; adenine phosphoribosyltransferase; AMP; AMP diphosphorylase; AMP pyrophosphorylase; APT_HUMAN; DKFZp686D13177; MGC125856; MGC125857; MGC129961; Transphosphoribosidase; adenine phosphoribosyltransferase-like; zgc:65965

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