MPDU1 (mannose-P-dolichol utilization defect 1) is a human homolog of Lec35, which is a hamster protein. This gene is localized to human chromosome 17p12-13. The encoded transmembrane protein, spans the membrane twice, and has a molecular weight of 27kDa. It has a putative ER (endoplasmic reticulum)-retention sequence (KKXX) in its cytosolic C-terminal. The N-terminal is also thought to face the cytosol.
Synonyms: Anti-Mannose-P-dolichol utilization defect 1 protein; Anti-SL15; Anti-Suppressor of Lec15 and Lec35 glycosylation mutation homolog
Storage: -20C
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Biochem Physiol Actions: MPDU1 (mannose-P-dolichol utilization defect 1) is responsible for the bioavailability of dolichol-P-glucose and dolichol-P-mannose (MPD), in the RER (rough endoplasmic reticulum). MPD is essential for the synthesis of glycosylphosphatidylinositols and lipid-linked oligosaccharides. These, in turn, regulate membrane anchoring and protein folding, respectively. Mutation in this gene is responsible for congenital disorders of glycosylation (CDGs), which is an inherited disorder caused due to errors in protein and lipid glycosylation. It might also be a sorting carrier of flippases, and might be responsible for either bringing or retaining flippases in the ER.
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