MPDU1 Back

mannose-P-dolichol utilization defect 1

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NCBI Description of MPDU1

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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

MPDU1 is highly significantly mutated in
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MPDU1 is significantly mutated in
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MPDU1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for MPDU1