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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.
Gene Name: | adenine phosphoribosyltransferase |
Synonyms: | APRT, AMP, AMP diphosphorylase, APRTD, AMP pyrophosphorylase, Transphosphoribosidase |
Target Sequences: | NM_000485 NP_000476.1 P07741 |
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