Aliases for MPDU1 Gene
External Ids for MPDU1 Gene
Previous GeneCards Identifiers for MPDU1 Gene
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]
GeneCards Summary for MPDU1 Gene
MPDU1 (Mannose-P-Dolichol Utilization Defect 1) is a Protein Coding gene. Diseases associated with MPDU1 include Congenital Disorder Of Glycosylation, Type If and Immature Cataract. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. An important paralog of this gene is SLC66A3.
UniProtKB/Swiss-Prot Summary for MPDU1 Gene
Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.