Search results for abx031453

Mannose-P-Dolichol Utilization Defect 1 Protein (MPDU1) Antibody, Abbexa, abx031453

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.