MPI Chromosome 15
Mannose phosphate isomerase
Upload your DNA to see your personal genotypes for variants in MPI.
What This Gene Does
Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Associated Conditions (2)
MPI-congenital disorder of glycosylation
MPI-related disorder
Key Variants
RS1057516550
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-related disorder, MPI-congenital disorder of glycosylation
Health Risk
RS1268293635
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS139228075
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS139866632
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS143982014
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-related disorder, MPI-congenital disorder of glycosylation
Health Risk
RS144118442
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS150217523
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS1595822583
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS199719453
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS199972529
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS200903491
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS2064752971
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
All Variants (132)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2505825222 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505825473 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505825546 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505829304 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505829426 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505831279 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505831709 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS752447493 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS759579169 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS786204593 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS863225086 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS868127074 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS104894494 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1057516424 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1374119101 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1452559752 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1555479351 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1555479423 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1661886822 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2064754424 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2064839839 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141209567 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505829401 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS369326210 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS745432667 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS747198298 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS749911553 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS753839890 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS757168691 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS765310894 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS776340315 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS863225087 | Health Risk | Pathogenic/Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |