MPDU1 Chromosome 17
Mannose-P-dolichol utilization defect 1
Upload your DNA to see your personal genotypes for variants in MPDU1.
What This Gene Does
This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Solute carrier family 66
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000129255
Associated Conditions (3)
MPDU1-congenital disorder of glycosylation
MPDU1-related disorder
Inborn genetic diseases
Key Variants
RS104894586
Conflicting classifications of pathogenicity
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
Health Risk
RS11078699
Conflicting classifications of pathogenicity
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
Health Risk
RS142551371
Conflicting classifications of pathogenicity
MPDU1-congenital disorder of glycosylation, MPDU1-related disorder, MPDU1-congenital disorder of glycosylation
Health Risk
RS148935720
Conflicting classifications of pathogenicity
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
Health Risk
RS199498675
Conflicting classifications of pathogenicity
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
Health Risk
RS555710402
Conflicting classifications of pathogenicity
MPDU1-congenital disorder of glycosylation, Inborn genetic diseases, MPDU1-congenital disorder of glycosylation
Health Risk
RS756471132
Conflicting classifications of pathogenicity
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
Health Risk
RS79286384
Conflicting classifications of pathogenicity
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
Health Risk
RS1555570093
Likely pathogenic
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
Health Risk
RS1555570110
Likely pathogenic
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
Health Risk
RS2150933483
Likely pathogenic
MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
Health Risk
RS368123972
Likely pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894586 | Health Risk | Conflicting classifications of pathogenicity | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS11078699 | Health Risk | Conflicting classifications of pathogenicity | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS142551371 | Health Risk | Conflicting classifications of pathogenicity | MPDU1-congenital disorder of glycosylation, MPDU1-related disorder, MPDU1-congenital disorder of glycosylation |
| RS148935720 | Health Risk | Conflicting classifications of pathogenicity | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS199498675 | Health Risk | Conflicting classifications of pathogenicity | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS555710402 | Health Risk | Conflicting classifications of pathogenicity | MPDU1-congenital disorder of glycosylation, Inborn genetic diseases, MPDU1-congenital disorder of glycosylation |
| RS756471132 | Health Risk | Conflicting classifications of pathogenicity | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS79286384 | Health Risk | Conflicting classifications of pathogenicity | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS1555570093 | Health Risk | Likely pathogenic | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS1555570110 | Health Risk | Likely pathogenic | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS2150933483 | Health Risk | Likely pathogenic | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS368123972 | Health Risk | Likely pathogenic | — |
| RS774113804 | Health Risk | Likely pathogenic | — |
| RS777696608 | Health Risk | Likely pathogenic | — |
| RS999384296 | Health Risk | Likely pathogenic | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS104894587 | Health Risk | Pathogenic | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS104894588 | Health Risk | Pathogenic | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |
| RS104894589 | Health Risk | Pathogenic | MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation |