Immunogen sequence: MADSELQLVE QRIRSFPDFP TPGVVFRDIS PVLKDPASFR AAIGLLARHL KATHGGRIDY IAGLDSRGFL FGPSLAQELG LGCVLIRKRG KLPGPTLWAS YSLEYGKAEL EIQKDALEPG QRVVVVDDLL ATGGTMNAAC ELLGRLQAEV LECVSLVELT SLKGREKLAP VPFFSLLQYE; Positive Samples: MCF-7, A-549, K-562, HeLa, Mouse small intestine; Cellular Location: Cytoplasm
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.
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Protein Aliases: Adenine phosphoribosyltransferase; AMP diphosphorylase; AMP pyrophosphorylase; APRT; DKFZp686D13177; MGC125856; MGC125857; MGC129961; transphosphoribosidase
Gene Aliases: AMP; APRT; APRTD; C85684