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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for APRT (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 353 Official gene symbol APRT Full name adenine phosphoribosyltransferase Aliases ,AMP,DKFZp686D13177,MGC125856,MGC125857,MGC129961, Gene summary 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] Location Chromosome: 16   Locus: 16q24 Gene position 88878342 - 88875877  Map Viewer Gene orientation minus Gene size 2466 bp Gene sequence >APRT:complement(436494..438959):Length=2466 GCGCTCGGGCTGCCGCTGGCTCTTCGCACGCGGCCATGGCCGACTCCGAGCTGCAGCTGG TTGAGCAGCGGATCCGCAGCTTCCCCGACTTCCCCACCCCAGGCGTGGTATTCAGGTGCA CGCACAGGCCGCCCTCGTGGCGCCCCGACCTGCGGGCCTACGGATGGGAGCGCGTGGCCC GCGACCTCCGGGCGGGCGGGGCGGGAACCCTCGTCTTTCGCCCCCGGGGCCCTGCCCTCC TTCGGCCCCGGCGTCACCAGGCCTGTCCTTGGGTCCAGGGACATCTCGCCCGTCCTGAAG GACCCCGCCTCCTTCCGCGCCGCCATCGGCCTCCTGGCGCGACACCTGAAGGCGACCCAC GGGGGCCGCATCGACTACATCGCAGGCGAGTGCCCAGTGGCCGCATCTAGGGCGCTTCCG CCTCTGCGCGCGCCGAGGGCAGCACGTGGGCTCTGCGCGTCTGCTTGGGGGAGGGCCTTT GGGGTGCTTCAGGGGGCGCCGGGACGGGCGCCGTGCTTGGGTCGCCCGGGAAGGGTTGTG AGATTGAGCCCCCGAGGCCGCCGCGCTGTGCAGGCGTCCTTCCCGCAGGTTCCGGGTCCC CAGCCCAGGACAGGCGTGACCGAGTTGCCGGGTCAGTTGGTCTCCCTGGAGTGCCCAAGC TGAATCCACAGGGCCCAGCTGCCTTGCTTCTTGTTCCTTCTGCGAGCTGGTATTGAGCGC CTGCCACGAGCCAGGCCTTCCCTGGTGAAGATCACGGAATGCCCACCCAGGGAAGGGAGG CCTGGAGGCCTCCGGGAGAGCCCAAGAGGTGGCCCAGGGAGAACAGAGTGTTCCTGGCCG TCTTGCCTCTCCTAGGGTGTGACAGCCCACTCCCTGGACACTGCCCTGAGGAAAGCGCCA GCTCTTGCTGGAGCCACAACACTGCCAGAGCTCCCTTCTCACCTCCTGCAGGAAGCCCTC CCTGACCTCCTGCCAGGCCGGGGCAGGGTTTCCCTGAGCGTCCCCCAACCATCACAGCTC AGGCCACCTCGAGAGACTCCCTTTTTAGACAGAAGCCCTGGTGCAGAGCTGCCTTTGAGA GTAAGCTGAGGCCTGTCAGGTTTCTACCAGCCCAGTTACAGATGGGCTGCTCAGCTCAGA GAGAGGGGTGGTGACTCCCCTAGGAACACACAGCTAAGAAGTGGTCCCTTAAAAGACAGA CCCAGGTCTGCACTCTGACCTGGAAGCAGCTCCGGGTAGGTGATGGGTAACATTCCTTAA ATGGTGCATGTCACTGGCCTTTCAGCTGGGAGCCAACCAGGTACCCCTTGCCACCGGCCA ACCCTGGCCCCTGGGGATTCCCATGCTGCCGAGTCACTCCTGTCACTTACCCTGACAGGC CTAGACTCCCGAGGCTTCCTCTTTGGCCCCTCCCTGGCCCAGGAGCTTGGACTGGGCTGC GTGCTCATCCGAAAGCGGGGGAAGCTGCCAGGCCCCACTCTGTGGGCCTCCTATTCCCTG GAGTACGGGAAGGTAAGAGGGCTGGGGTGGCCAGAGGAAGGGCAGGGCCAGGCCACCGTG GCCACTCTCCCCCAGTTCTAAAAGGCCTTCCCAGGCGTGTCAAGTGGAGCTGCTGTGGTT ACAGTGGCCTTGGGAGCTCAGAGAGGTTGAGACATAGGCTGGGCTCACACAGCCAGGTAA CAGCAAGGTGGGGTTGGAGTCAGGGTCTAGGGTGGCAGCTGCCAAGCTGTGCAACAAAGC TGTTTTCTGCGGGAGGCTGAGGACCACACACCACTTCCCACTCCAGGCTGAGCTGGAGAT TCAGAAAGACGCCCTGGAGCCAGGACAGAGGGTGGTCGTCGTGGATGATCTGCTGGCCAC TGGTGGTAAGGGTCTCCCCGCAGCCAACTGCTGTGGCTCCAAGGGCCTGGTGGGAGTGGG ACAGGACCTCGCTGTGTGACATGGGATGCAGCTTACTGTTGTCCAGAGGGTGCCTGGTGG CCAGGCCGACACCTTCCTCTCCCCATGCCTTCCCCTCCCCAACCCAGGGGCTGGCCTGGA GCACCTGCTCTCTGCAGCCCAGGCCAACTGGGGACCTCACCCTCCCATCCCCAGGAACCA TGAACGCTGCCTGTGAGCTGCTGGGCCGCCTGCAGGCTGAGGTCCTGGAGTGCGTGAGCC TGGTGGAGCTGACCTCGCTTAAGGGCAGGGAGAAGCTGGCACCTGTACCCTTCTTCTCTC TCCTGCAGTATGAGTGACCACAGGGCCTCCCAGCCCAACATCTCCAGCTGGATCCCAGGG AAATATCAGCCTTGGGCAACTGCAGTGACCAGGGGCACCGGCTGCCCACAGGGAACACAT TCCTTTGCTGGGGTTCAGCGCCTCTCCTGGGGCTGGAAGTGCCAAAGCCTGGGGCAAAGC TGTGTTTCAGCCACACTGAACCCAATTACACACAGCGGGAGAACGCAGTAAACAGCTTTC CCACAA OMIM ID 102600