MPDU1, Official Symbol MPDU1provided by HGNC Official Full Name mannose-P-dolichol utilization defect 1provided by HGNC Primary source HGNC:HGNC:7207 See related Ensembl:ENSG00000129255 MIM:604041; AllianceGenome:HGNC:7207 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SL15; CDGIF; Lec35; My008; PQLC5; PP3958; SLC66A5; HBEBP2BPA Summary 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] Expression Ubiquitous expression in colon (RPKM 20.5), duodenum (RPKM 20.5) and 25 other tissues See more Orthologs mouse all