Gene: GMDS

Alternate names for this Gene: GMD|SDR3E1

Gene 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].

Gene is located in Chromosome: 6

Location in Chromosome : 6p25.3

Description of this Gene: GDP-mannose 4,6-dehydratase

Type of Gene: protein-coding

rs17134767 in GMDS gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs11969985 in GMDS gene and Glaucoma, Open-Angle PMID 25173105 2014 Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.

PMID 29891935 2018 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.

rs115986297 in GMDS gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs115986297 in GMDS gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs115986297 in GMDS gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3778523 in GMDS gene and Tonometry PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs7757144 in GMDS gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs17134767 in GMDS gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.