GMPS
guanosine monophosphate synthase
Summary
In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1753888166 | 3:155,588,684 | A/C | — | uncertain significance |
| rs9868194 | 3:155,588,695 | G/T | — | benign |
| rs1754524945 | 3:155,611,353 | A/T | — | uncertain significance |
| rs557093697 | 3:155,611,487 | C/T | — | uncertain significance |
| rs61758982 | 3:155,611,493 | A/G | — | benign |
| rs762197231 | 3:155,615,723 | A/G | — | uncertain significance |
| rs1390954312 | 3:155,621,730 | A/G | — | uncertain significance |
| rs746381540 | 3:155,624,031 | C/T | — | uncertain significance |
| rs2473104033 | 3:155,624,050 | C/A | — | uncertain significance |
| rs763588850 | 3:155,628,537 | C/T | — | uncertain significance |
| rs1386626958 | 3:155,628,607 | C/T | — | uncertain significance |
| rs35910218 | 3:155,628,662 | G/A | — | benign |
| rs369699211 | 3:155,629,045 | A/G | — | uncertain significance |
| rs761130622 | 3:155,632,298 | C/T | — | uncertain significance |
| rs187670203 | 3:155,632,338 | C/T | — | benign |
| rs200285083 | 3:155,632,349 | C/A | — | uncertain significance |
| rs542017631 | 3:155,633,969 | G/T | — | uncertain significance |
| rs755722810 | 3:155,640,030 | A/C | — | uncertain significance |
| rs1755422783 | 3:155,643,046 | A/G | — | uncertain significance |
| rs1755426331 | 3:155,643,154 | A/G | — | uncertain significance |
| rs761314783 | 3:155,649,563 | C/T | — | uncertain significance |
| rs61750370 | 3:155,649,576 | A/C | missense variant | benign |
| rs2473153510 | 3:155,649,579 | T/C | — | uncertain significance |
| rs768652679 | 3:155,649,648 | G/A | — | uncertain significance |
| rs747629729 | 3:155,649,653 | T/G | missense variant | — |
| rs751392523 | 3:155,652,717 | A/G | — | uncertain significance |
| rs375949741 | 3:155,652,724 | C/T | — | uncertain significance |
| rs1560055265 | 3:155,652,793 | C/T | — | uncertain significance |
| rs777424999 | 3:155,652,806 | T/C | — | uncertain significance |
| rs139844459 | 3:155,652,807 | T/C | — | benign |
| rs2473159618 | 3:155,652,814 | C/T | — | uncertain significance |
| rs1394916286 | 3:155,652,817 | A/G | — | uncertain significance |
| rs780915192 | 3:155,654,133 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.