GMDS GDP-mannose 4,6-dehydratase
Gene ID: 2762, updated on 14-Nov-2024Gene type: protein coding
Also known as: GMD; SDR3E1
- See all available tests in GTR for this gene
- Go to complete Gene record for GMDS
- Go to Variation Viewer for GMDS variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. GeneReviews: Not available | |
| Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients. GeneReviews: Not available |
Genomic context
- Location:
- 6p25.3
- Sequence:
- Chromosome: 6; NC_000006.12 (1623806..2245605, complement)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GMDS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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