{"symbol":"MPDU1","synonyms":["PP3958","HBEBP2BPA","LEC35","MY008","PQLC5","CDGIF","SL15","SLC66A5"],"name":"mannose-P-dolichol utilization defect 1","description":"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. [provided by RefSeq, Dec 2008]","ncbiEntrezGeneId":9526,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9526","proteins":[{"symbol":"MPU1_HUMAN","href":"/api/1.0/protein/MPU1_HUMAN"}],"hgncRootFamilies":[]}