GMDS
GDP-mannose 4,6-dehydratase
Summary
GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2480530066 | 6:1,624,425 | C/T | — | uncertain significance |
| rs149819971 | 6:1,624,436 | C/T | — | uncertain significance |
| rs34826710 | 6:1,666,657 | C/T | intron variant | — |
| rs11242713 | 6:1,668,142 | G/T | — | — |
| rs2814814 | 6:1,678,538 | C/A | regulatory region variant | — |
| rs12203057 | 6:1,687,710 | C/T | intron variant | — |
| rs6936881 | 6:1,713,692 | C/T | intron variant | — |
| rs888240313 | 6:1,742,718 | T/C | — | uncertain significance |
| rs143104834 | 6:1,742,788 | C/T | — | likely benign |
| rs749276776 | 6:1,742,789 | G/A | — | uncertain significance |
| rs6916760 | 6:1,747,021 | C/T | intron variant | — |
| rs6596848 | 6:1,749,782 | A/G | intron variant | — |
| rs3800120 | 6:1,894,146 | G/A | — | — |
| rs7762291 | 6:1,912,462 | C/T | intron variant | — |
| rs3800131 | 6:1,918,262 | A/T | — | — |
| rs12664587 | 6:1,948,703 | A/T | intron variant | — |
| rs2761235 | 6:1,951,135 | C/T | intron variant | — |
| rs62391632 | 6:1,958,002 | G/T | intron variant | — |
| rs2533373219 | 6:1,960,190 | T/C | — | uncertain significance |
| rs2533382705 | 6:1,961,157 | A/G | — | uncertain significance |
| rs774625510 | 6:1,961,172 | G/A | — | uncertain significance |
| rs1462367301 | 6:1,961,184 | G/A | — | uncertain significance |
| rs56226194 | 6:1,963,754 | T/C | intron variant | — |
| rs12175531 | 6:1,966,966 | C/T | intron variant | — |
| rs17134549 | 6:1,974,874 | T/A | intron variant | — |
| rs56031192 | 6:1,980,208 | T/A | intron variant | — |
| rs9392348 | 6:1,989,604 | G/A | intron variant | — |
| rs7771247 | 6:2,005,591 | A/G | — | — |
| rs6912255 | 6:2,047,772 | C/G | intron variant | — |
| rs115986297 | 6:2,050,791 | A/C | — | — |
| rs11242735 | 6:2,055,677 | G/T | — | — |
| rs9392365 | 6:2,091,975 | A/G | — | — |
| rs9378682 | 6:2,094,123 | T/A | — | — |
| rs6914086 | 6:2,096,035 | T/C | intron variant | — |
| rs369492511 | 6:2,117,711 | A/G | — | uncertain significance |
| rs771650335 | 6:2,117,772 | G/A | — | uncertain significance |
| rs1391141392 | 6:2,117,775 | G/A | — | uncertain significance |
| rs1196388 | 6:2,232,808 | T/G | regulatory region variant | — |
| rs9378688 | 6:2,235,633 | G/A | intron variant | — |
| rs761030409 | 6:2,245,631 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.