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

BHE13703785

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.

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