| Entrez Gene ID | 2762 |
|---|---|
| Official Gene Symbol | GMDS (GeneCards) |
| Full name | GDP-mannose 4,6-dehydratase |
| Location | 6p25.3 |
| Other ids | Vega : OTTHUMG00000016143 MIM : 602884 HGNC : HGNC:4369 Ensembl : ENSG00000112699 |
| Other names | GMD, SDR3E1 |
| 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] |
Found 8 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 8964 | 2762 | GMDS | 6 | 2034471 | 2034471 | Asymptomatic | HiSeq X Ten |
| 9290 | 2762 | GMDS | 6 | 2048086 | 2048086 | Asymptomatic | HiSeq X Ten |
| 9915 | 2762 | GMDS | 6 | 1726214 | 1726214 | Asymptomatic | HiSeq X Ten |
| 9956 | 2762 | GMDS | 6 | 1724594 | 1724594 | Asymptomatic | HiSeq X Ten |
| 9957 | 2762 | GMDS | 6 | 1765737 | 1765737 | Asymptomatic | HiSeq X Ten |
| 23151 | 2762 | GMDS | 6 | 1872138 | 1872138 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26089 | 2762 | GMDS | 6 | 2229346 | 2229346 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26261 | 2762 | GMDS | 6 | 2207441 | 2207441 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |