DPM3 Chromosome 1
Dolichyl-phosphate mannosyltransferase subunit 3, regulatory
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What This Gene Does
Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Dolichyl-phosphate mannosyltransferase subunits
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000179085
Associated Conditions (8)
DPM3-congenital disorder of glycosylation
DPM3-related disorder
Myopathy
EMG: myopathic abnormalities
Cardiomyopathy
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development)
type B
15
Key Variants
RS1664698331
Conflicting classifications of pathogenicity
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
Health Risk
RS193215070
Conflicting classifications of pathogenicity
DPM3-congenital disorder of glycosylation, DPM3-related disorder, DPM3-congenital disorder of glycosylation
Health Risk
RS1057518905
Likely pathogenic
Myopathy, EMG: myopathic abnormalities, Cardiomyopathy
Health Risk
RS121908155
Pathogenic
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development)
Health Risk
RS1444066075
Pathogenic
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
Health Risk
RS1557794919
Pathogenic
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
Health Risk
RS2102491600
Pathogenic
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
Health Risk
RS2526668106
Pathogenic
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
Health Risk
RS2526669183
Pathogenic
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
Health Risk
RS2526669346
Pathogenic
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
Health Risk
RS749000879
Pathogenic
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
Health Risk
RS778481307
Pathogenic
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1664698331 | Health Risk | Conflicting classifications of pathogenicity | DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation |
| RS193215070 | Health Risk | Conflicting classifications of pathogenicity | DPM3-congenital disorder of glycosylation, DPM3-related disorder, DPM3-congenital disorder of glycosylation |
| RS1057518905 | Health Risk | Likely pathogenic | Myopathy, EMG: myopathic abnormalities, Cardiomyopathy |
| RS121908155 | Health Risk | Pathogenic | DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development) |
| RS1444066075 | Health Risk | Pathogenic | DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation |
| RS1557794919 | Health Risk | Pathogenic | DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation |
| RS2102491600 | Health Risk | Pathogenic | DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation |
| RS2526668106 | Health Risk | Pathogenic | DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation |
| RS2526669183 | Health Risk | Pathogenic | DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation |
| RS2526669346 | Health Risk | Pathogenic | DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation |
| RS749000879 | Health Risk | Pathogenic | DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation |
| RS778481307 | Health Risk | Pathogenic | DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation |
| RS745692004 | Health Risk | Pathogenic/Likely pathogenic | DPM3-congenital disorder of glycosylation, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B |