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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MPI
mannose phosphate isomerase
Chromosome 15 Β· 15q24.1-q24.2
NCBI Gene: 4351Ensembl: ENSG00000178802.18HGNC: HGNC:7216UniProt: B4DW50
55PubMed Papers
21Diseases
0Drugs
147Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mannose-6-phosphate isomerase activitymannose to fructose-6-phosphate catabolic processGDP-D-mannose biosynthetic process from fructose-6-phosphateextracellular exosomeMPI-congenital disorder of glycosylationneurodegenerative diseasecongenital disorder of glycosylationSRD5A3-congenital disorder of glycosylation
✦AI Summary

MPI (mannose phosphate isomerase) is a cytosolic enzyme that catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate, playing a critical role in GDP-mannose biosynthesis 1. This metabolic function is essential for supplying D-mannose derivatives required for eukaryotic protein glycosylation reactions. Mutations in the MPI gene cause congenital disorder of glycosylation type 1B (CDG-1B), a potentially treatable condition characterized by hypoglycosylation of serum and tissue glycoproteins 1. CDG-1B presents as the gastrointestinal form of congenital disorders of glycosylation, manifesting with congenital hepatic fibrosis and protein-losing enteropathy due to impaired glycoprotein synthesis 1. The MPI gene spans approximately 5 kilobases across 8 exons; disease-causing mutations include missense mutations, splice variants, and insertions that can destabilize transcripts 1. Clinical significance stems from CDG-1B being one of the few treatable glycosylation disorders, potentially responsive to mannose supplementation therapy. Understanding MPI function and mutations is important for genetic diagnosis and therapeutic intervention in this rare inherited metabolic disorder.

Sources cited
1
MPI gene structure, mutations in CDG-Ib patients, enzyme function in mannose-6-phosphate isomerization, and disease presentation
PMID: 10980531
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
MPI-congenital disorder of glycosylationOpen Targets
0.85Strong
neurodegenerative diseaseOpen Targets
0.53Moderate
congenital disorder of glycosylationOpen Targets
0.48Moderate
congenital disorder of glycosylation type IOpen Targets
0.37Weak
SRD5A3-congenital disorder of glycosylationOpen Targets
0.37Weak
hypertensionOpen Targets
0.32Weak
degeneration of macula and posterior poleOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.30Weak
macular degenerationOpen Targets
0.27Weak
essential hypertensionOpen Targets
0.27Weak
cardiovascular diseaseOpen Targets
0.27Weak
Abdominal Aortic AneurysmOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
osteoarthritisOpen Targets
0.14Weak
systemic sclerodermaOpen Targets
0.10Weak
mathematical abilityOpen Targets
0.10Weak
osteoarthritis, hipOpen Targets
0.10Weak
osteoarthritis, kneeOpen Targets
0.10Weak
coronary artery diseaseOpen Targets
0.09Suggestive
late-onset Alzheimers diseaseOpen Targets
0.08Suggestive
Congenital disorder of glycosylation 1BUniProt
Pathogenic Variants147
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)Pathogenic
MPI-congenital disorder of glycosylation|not provided|MPI-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 219
NM_002435.3(MPI):c.713del (p.Leu238fs)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 238
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 5
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 398
NM_002435.3(MPI):c.845-2delLikely pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 56
NM_002435.3(MPI):c.16+2T>CLikely pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025
NM_002435.3(MPI):c.497_498del (p.Glu166fs)Likely pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 166
NM_002435.3(MPI):c.1253G>A (p.Arg418His)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 418
NM_002435.3(MPI):c.1120C>T (p.Gln374Ter)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 374
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 240
NM_002435.3(MPI):c.884G>A (p.Arg295His)Likely pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 295
NM_002435.3(MPI):c.1022dup (p.Val342fs)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 342
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)Likely pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2025β†’ Residue 339
NM_002435.3(MPI):c.488-1G>CPathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2024
NM_002435.3(MPI):c.166dup (p.Arg56fs)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2024β†’ Residue 56
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2024β†’ Residue 218
NM_002435.3(MPI):c.488-2A>GLikely pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2024
NM_002435.3(MPI):c.969_970del (p.Phe324fs)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2024β†’ Residue 324
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)Pathogenic
MPI-congenital disorder of glycosylation
β˜…β˜…β˜†β˜†2024β†’ Residue 115
View on ClinVar β†—
Related Genes
TALDO1Protein interaction99%HK3Protein interaction99%PMM1Protein interaction99%PFKMProtein interaction98%PMM2Protein interaction98%PFKFB3Protein interaction97%
Tissue Expression6 tissues
Heart
100%
Liver
71%
Ovary
65%
Brain
52%
Lung
31%
Bone Marrow
24%
Gene Interaction Network
Click a node to explore
MPITALDO1HK3PMM1PFKMPMM2PFKFB3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P34949
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.04LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.78 [0.59–1.04]
RankingsWhere MPI stands among ~20K protein-coding genes
  • #8,222of 20,598
    Most Researched55
  • #517of 5,498
    Most Pathogenic Variants147 Β· top 10%
  • #10,359of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedMPI
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
PMID: 10980531
Hum Mutat Β· 2000
1.00
2
Nuclear Cardiology in Asia.
PMID: 32284113
Semin Nucl Med Β· 2020
0.90
3
Magnetic Particle Imaging in Neurosurgery.
PMID: 30738942
World Neurosurg Β· 2019
0.80
4
Myocardial performance index and cardiovascular diseases.
PMID: 37248742
Echocardiography Β· 2023
0.70
5
Using the Multidimensional Prognostic Index (MPI) to improve cost-effectiveness of interventions in multimorbid frail older persons: results and final recommendations from the MPI_AGE European Project.
PMID: 32180170
Aging Clin Exp Res Β· 2020
0.60