2. Gene
  3. GMDS - GDP-mannose 4,6-dehydratase Gene

GMDS - GDP-mannose 4,6-dehydratase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GMD; SDR3E1

Gene ID: 2762 | Gene type: protein coding

About GMDS

Cytogenetic location: 6p25.3 Genomic coordinates (GRCh38): 6:1,623,806-2,245,605 (from NCBI)

This gene has 10 transcripts (splice variants), 214 orthologues and 10 paralogues. Broad expression in colon (RPKM 6.8), stomach (RPKM 6.6) and 23 other tissues.

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]

GMDS Products(2)

mRNA Protein Name
NM_001253846.2 NP_001240775.1 GDP-mannose 4,6 dehydratase isoform 2
NM_001500.4 NP_001491.1 GDP-mannose 4,6 dehydratase isoform 1

GMDS Protein Structure

Epimerase

Epimerase: NAD dependent epimerase/dehydratase family (26 - 274)

  • 0
  • 100
  • 200
  • 300
  • 372 a.a.
Protein Preferred Names Protein Names

GDP-mannose 4,6 dehydratase

GDP-D-mannose dehydratase

Related Diseases

Diseases Alias
Congenital Disorder Of Glycosylation, Type Iic

CDG2C

Congenital Disorder Of Glycosylation Type Iic

Leukocyte Adhesion Deficiency Type Ii

Cdg Iic

Cdgiic

Rambam-Hasharon Syndrome

Leukocyte Adhesion Deficiency, Type Ii

Lad2

Leukocyte Adhesion Deficiency 2

Cdg-Iic

Congenital Disorder Of Glycosylation, Type 2c

Rhs

Cdg Syndrome Type Iic

Lad-Ii

Rambam Hasharon Syndrome

Congenital Disorder Of Glycosylation 2c

Glycosylation, Congenital Disorder Of, Type Iic
Partial Fetal Alcohol Syndrome
Non-Syndromic X-Linked Intellectual Disability Arx-Related

Arx-Related Intellectual Disability

Mrxarx

X-Linked Mental Retardation 29

X-Linked Mental Retardation 29 And Others

X-Linked Mental Retardation 32

X-Linked Mental Retardation 33

X-Linked Mental Retardation 38

X-Linked Mental Retardation 43

X-Linked Mental Retardation 76

X-Linked Mental Retardation 87

X-Linked Mental Retardation With Or Without Seizures Arx-Related

Mental Retardation, X-Linked, Type 29 And Others
Anterior Segment Dysgenesis 3

Iridogoniodysgenesis, Type 1

Irid1

Iridogoniodysgenesis Anomaly, Autosomal Dominant

Igda

ASGD3

Iris Hypoplasia With Glaucoma

Glaucoma Iridogoniodysplasia, Familial

Anterior Segment Dysgenesis 3, Multiple Subtypes

Iridogoniodysgenesis Type 1

Glaucoma Iridogoniodysgenesia

Igda Syndrome

Iridogoniodysgenesis Anomaly
Traumatic Glaucoma

Glaucoma Associated With Ocular Trauma
Retinitis Pigmentosa 20

RP20

Retinitis Pigmentosa, Type 20
Axenfeld-Rieger Syndrome, Type 1

Axenfeld-Rieger Syndrome Type 1

RIEG1

Rieg

Rgs

Rieger Syndrome Type 1

Rieger Syndrome, Type 1

Axenfeld-Rieger Syndrome 1

Iridogoniodysgenesis With Somatic Anomalies
Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive

Autosomal Recessive Centronuclear Myopathy

CNM2

Centronuclear Myopathy 2

Ar-Cnm

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Centronuclear Myopathy Autosomal Recessive

Myopathy, Centronuclear, Type 2
Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary
Primary Congenital Glaucoma
Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence
Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters
Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-164141 GDP-D-Rha6F2 / Unkown
HY-RS05515 GMDS Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus GMDS RGD RGD:1311008
Macaca mulatta GMDS VGNC VGNC:73079
Mus musculus GMDS MGD MGI:1891112
Canis familiaris GMDS VGNC VGNC:58303
Felis catus GMDS VGNC VGNC:62604
Bos taurus GMDS VGNC VGNC:55901