mannose 1-phosphate guanylyltransferase

consider also the bifunctional enzyme, phosphomannose isomerase-guanosine diphospho-D-mannose pyrophosphorylase; rfbM has similarity to long-chain, iron-containing alcohol dehydrogenases

Also Known As:

GDP mannose pyrophosphorylase; GDP-mannose pyrophosphorylase; GTP-alpha-D-mannose-1-phosphate guanylyltransferase; MPG1 transferase; PSA1 protein, S cerevisiae; VIG9 protein, S cerevisiae; YDL055C protein, S cerevisiae; rfbM protein, E coli

Networked: 14 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Transferases: 6589
    - Phosphotransferases: 42769
      - Nucleotidyltransferases: 29
        mannose 1-phosphate guanylyltransferase: 14

Experts

1.	Astrea, Guja: 2 articles (01/2018 - 01/2018)
2.	Bertini, Enrico: 2 articles (01/2018 - 07/2013)
3.	Bruno, Claudio: 2 articles (01/2018 - 01/2018)
4.	Fiorillo, Chiara: 2 articles (01/2018 - 01/2018)
5.	Moro, Francesca: 2 articles (01/2018 - 01/2018)
6.	Muntoni, Francesco: 2 articles (01/2018 - 07/2013)
7.	Santorelli, Filippo M: 2 articles (01/2018 - 01/2018)
8.	Campbell, Kevin P: 2 articles (12/2015 - 07/2013)
9.	Moore, Steven A: 2 articles (12/2015 - 07/2013)
10.	Willer, Tobias: 2 articles (12/2015 - 07/2013)

Related Diseases

1.	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 06/01/2019 - "GDP-mannose pyrophosphorylase B (GMPPB) related phenotype spectrum ranges widely from congenital myasthenic syndrome (CMS), limb-girdle muscular dystrophy type 2T (LGMD 2T) to severe congenital muscle-eye-brain syndrome. " 07/11/2013 - "Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan." 09/24/2015 - "Limb Girdle Muscular Dystrophy (LGMD), caused by defective α-dystroglycan (α-DG) glycosylation, was recently associated with mutations in Isoprenoid synthase domain-containing (ISPD) and GDP-mannose pyrophosphorylase B (GMPPB) genes. "
2.	Muscular Dystrophies (Muscular Dystrophy) 07/11/2013 - "Using a combination of exome and Sanger sequencing in eight unrelated individuals, we present evidence that mutations in guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) can result in muscular dystrophy variants with hypoglycosylated α-DG. " 01/01/2018 - "Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene encoding a key enzyme of the glycosylation pathway have been described in families with congenital (CMD) and limb girdle (LGMD) muscular dystrophy with reduced alpha-dystroglycan (α-DG) at muscle biopsy.Patients" 12/01/2015 - "Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently identified as a cause of muscular dystrophy resulting from abnormal glycosylation of α-dystroglycan. "
3.	Hypersensitivity (Allergy) 11/25/2008 - "Here, we report that mutations in the Arabidopsis gene encoding GDP-mannose pyrophosphorylase (GMPase) essential for synthesizing GDP-mannose confer hypersensitivity to NH(4)(+). " 05/01/2011 - "The ascorbic acid (AA)-deficient Arabidopsis thaliana mutant vtc1-1, which is defective in GDP-mannose pyrophosphorylase (GMPase), exhibits conditional hypersensitivity to ammonium (NH(4) (+) ), a phenomenon that is independent of AA deficiency. " 01/01/2010 - "A mutation in GDP-mannose pyrophosphorylase causes conditional hypersensitivity to ammonium, resulting in Arabidopsis root growth inhibition, altered ammonium metabolism, and hormone homeostasis."
4.	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 06/01/2019 - "GDP-mannose pyrophosphorylase B (GMPPB) related phenotype spectrum ranges widely from congenital myasthenic syndrome (CMS), limb-girdle muscular dystrophy type 2T (LGMD 2T) to severe congenital muscle-eye-brain syndrome. " 01/01/2018 - "One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes. "
5.	Esophageal Achalasia (Megaesophagus) 01/06/2023 - "We recently showed that mutations in GDP-mannose pyrophosphorylase A (GMPPA) can cause a syndrome characterized by alacrima, achalasia, mental retardation, and myopathic alterations (AAMR syndrome). " 10/03/2013 - "In guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), we identified a homozygous nonsense mutation that segregated with achalasia and alacrima, delayed developmental milestones, and gait abnormalities in a consanguineous Pakistani pedigree. "

Related Drugs and Biologics

1.	Guanosine Diphosphate Mannose (GDP Mannose)
2.	Dystroglycans (Dystroglycan)
3.	Ammonium Compounds
4.	Proteins (Proteins, Gene)
5.	Mannose-6-Phosphate Isomerase (Mannose 6 Phosphate Isomerase)
6.	Guanosine Diphosphate (GDP)
7.	Nonsense Codon (Nonsense Mutation)
8.	Terpenes (Terpenoids)
9.	Hormones (Hormone)
10.	Enzymes