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Immunogen sequence: MADSELQLVE QRIRSFPDFP TPGVVFRDIS PVLKDPASFR AAIGLLARHL KATHGGRIDY IAGD
Highest antigen sequence identity to the following orthologs: Mouse - 73%, Rat - 78%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Adenine phosphoribosyltransferase; AMP diphosphorylase; AMP pyrophosphorylase; APRT; DKFZp686D13177; MGC125856; MGC125857; MGC129961; transphosphoribosidase
基因别名: AMP; APRT; APRTD
UniProt ID: (Human) P07741
Entrez Gene ID: (Human) 353