PMM2 Chromosome 16
Phosphomannomutase 2
Upload your DNA to see your personal genotypes for variants in PMM2.
What This Gene Does
The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
HAD Asp-based non-protein phosphatases
Locus Type
gene with protein product
Location
16p13.2
Ensembl
ENSG00000140650
Associated Conditions (17)
Corticosteroids response
PMM2-congenital disorder of glycosylation
PMM2-related disorder
Inborn genetic diseases
Cerebellar ataxia
6 conditions
Congenital disorder of glycosylation
Congenital cerebellar hypoplasia
Muscular dystrophy
Diabetes mellitus
Congenital disorder of glycosylation type I
Focal segmental glomerulosclerosis
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
See cases
Intellectual disability
Premature ovarian failure
Key Variants
RS2060938199
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS104894530
Conflicting classifications of pathogenicity
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
Health Risk
RS115344041
Conflicting classifications of pathogenicity
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
Health Risk
RS1156500366
Conflicting classifications of pathogenicity
Health Risk
RS1159211374
Conflicting classifications of pathogenicity
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
Health Risk
RS1187245939
Conflicting classifications of pathogenicity
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
Health Risk
RS1215262242
Conflicting classifications of pathogenicity
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
Health Risk
RS138306798
Conflicting classifications of pathogenicity
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
Health Risk
RS138528126
Conflicting classifications of pathogenicity
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
Health Risk
RS142459706
Conflicting classifications of pathogenicity
PMM2-congenital disorder of glycosylation, PMM2-related disorder, PMM2-congenital disorder of glycosylation
Health Risk
RS146990448
Conflicting classifications of pathogenicity
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
Health Risk
RS149849259
Conflicting classifications of pathogenicity
PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
Health Risk
All Variants (224)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201960869 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060617981 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060678732 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060686245 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060686496 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2060937980 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS2141014102 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS368582085 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-related disorder, PMM2-congenital disorder of glycosylation |
| RS370160676 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS376754460 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS398123309 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS532870929 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-related disorder, PMM2-congenital disorder of glycosylation |
| RS747777230 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS755008774 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, Inborn genetic diseases, PMM2-congenital disorder of glycosylation |
| RS756848112 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS759513930 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-related disorder, PMM2-congenital disorder of glycosylation |
| RS760265100 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, PMM2-congenital disorder of glycosylation, Inborn genetic diseases |
| RS764353860 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, Inborn genetic diseases, PMM2-congenital disorder of glycosylation |
| RS765433263 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-related disorder, PMM2-congenital disorder of glycosylation |
| RS767831048 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS770458492 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS780588364 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS786204591 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |
| RS958073558 | Health Risk | Pathogenic/Likely pathogenic | PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation |