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MPDU1 is 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.
Gene Name: | mannose-P-dolichol utilization defect 1 |
Synonyms: | MPDU1, CDGIF, PQLC5, Lec35, My008, PP3958, HBEBP2BPA, SL15 |
Target Sequences: | NM_004870 NP_004861.2 O75352 |
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