mannose-P-dolichol utilization defect 1

Symbol

MPDU1 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
F38E1.9 Caenorhabditis elegans
CG3792 Drosophila melanogaster
mpdu1b Danio rerio
Mpdu1 Mus musculus
Mpdu1 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3550 Gene expression of MPDU1 decreases with age Molecular skin Human MPDU1 —

GO Terms

GO IDGO TermGO Category
GO:0006457 protein folding biological_process
GO:0006488 dolichol-linked oligosaccharide biosynthetic process biological_process
GO:0006810 transport biological_process
GO:0009312 oligosaccharide biosynthetic process biological_process
GO:0005739 mitochondrion cellular_component
GO:0005783 endoplasmic reticulum cellular_component
GO:0005789 endoplasmic reticulum membrane cellular_component
GO:0016020 membrane cellular_component
GO:0016021 integral to membrane cellular_component