GMDS - GDP-mannose 4,6-dehydratase Gene

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05515	GMDS Human Pre-designed siRNA Set A		/	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