Table A2.
List of the human purine pathway enzymes shown in Figure 1. Enzyme features were obtained from the NCBI web site [63].
| Protein Name | Gene Location | Enzymatic Activity |
|---|---|---|
| ADA | 20q13.12 | Adenosine deaminase |
| ADK | 10q22 | Adenosine kinase |
| ADSL | 22q13.1 | Adenylosuccinate lyase |
| ADSS | 1q44 | Adenylosuccinate synthase |
| AK1 | 9q34.11 | Adenylate kinase |
| AK2 | 1p35.1 | Adenylate kinase |
| AK3 | 9p24.1 | Adenylate kinase |
| AK4 | 1p31.3 | Adenylate kinase |
| AK5 | 1p31.1 | Adenylate kinase |
| AK6 | 5q13.2 | Adenylate kinase |
| AK7 | 14q32.2 | Adenylate kinase |
| AK8 | 9q34.13 | Adenylate kinase |
| AK9 | 6q21 | Adenylate kinase |
| AMPD1 | 1p13.2 | Adenosine monophosphate deaminase |
| AMPD2 | 1p13.3 | Adenosine monophosphate deaminase |
| AMPD3 | 11p15.4 | Adenosine monophosphate deaminase |
| APRT | 16q24.3 | Adenine phosphoribosyltransferase |
| ATIC | 2q35 | Amino-Imidazole CarboxAmide Ribonucleotide transformylase and IMP cyclohydrolase |
| GAH | 9q21.13 | Guanine deaminase |
| GART | 21q22.11 | Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase and phosphoribosylaminoimidazole synthetase |
| GMPS | 3q25.31 | Guanine monophosphate synthase |
| GUK1 | 1q42.13 | Guanylate kinase |
| GUK2 | 1q32.1-q42 | Guanylate kinase |
| HPRT1 | Xq26.1 | Hypoxanthine phosphoribosyltransferase |
| IMPDH1 | 7q32.1 | Inosine monophosphate dehydrogenase |
| IMPDH2 | 3p21.31 | Inosine monophosphate dehydrogenase |
| NME1 | 17q21.33 | Nucleoside diphosphate kinase |
| NME2 | 17q21.33 | Nucleoside diphosphate kinase |
| NME3 | 16p13.3 | Nucleoside diphosphate kinase |
| NME4 | 16p13.3 | Nucleoside diphosphate kinase |
| NME5 | 5q31.2 | Nucleoside diphosphate kinase |
| NME6 | 3p21.31 | Nucleoside diphosphate kinase |
| NME7 | 1q24.2 | Nucleoside diphosphate kinase |
| PAICS | 4q12 | Phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthetase |
| PFAS | 17p13.1 | Phosphoribosylformylglycinamidine synthase |
| PNP | 14q11.2 | Purine nucleoside phosphorylase |
| PPAT | 4q12 | Phosphoribosyl pyrophosphate amidotransferase |
| PRPS1 | Xq22.3 | Phosphoribosyl pyrophosphate synthetase 1 |
| PRPS2 | Xp22.2 | Phosphoribosyl pyrophosphate synthetase 2 |
| RRM1 | 11p15.4 | Ribonucleotide reductase catalytic subunit |
| RRM2 | 2p25.1 | Ribonucleotide reductase regulatory subunit |
| RRM2B | 8q22.3 | Ribonucleotide reductase regulatory subunit |
| XDH | 2p23.1 | Xanthine dehydrogenase/oxidase |