DPM1
Function
Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex.
Involvement in disease
Congenital disorder of glycosylation 1E
CDG1E
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein glycosylation.
Sequence Similarities
Belongs to the glycosyltransferase 2 family.
Cellular localization
- Endoplasmic reticulum
Alternative names
Dolichol-phosphate mannosyltransferase subunit 1, Dolichol-phosphate mannose synthase subunit 1, Dolichyl-phosphate beta-D-mannosyltransferase subunit 1, Mannose-P-dolichol synthase subunit 1, DPM synthase subunit 1, MPD synthase subunit 1, DPM1