Gene Symbol | MPDU1 |
Entrez Gene ID | 9526 |
Full Name | mannose-P-dolichol utilization defect 1 |
Synonyms | CDGIF,HBEBP2BPA,Lec35,My008,PP3958,PQLC5,SL15 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type If, 609180 (3) |