Human Mannose-P-dolichol utilization defect 1 protein (MPDU1) ELISA Kit

MPDU1 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 MPDU1 result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants.