Entrez gene ID | | 9526 |
Official gene symbol | | MPDU1 |
Full name | | mannose-P-dolichol utilization defect 1 |
Aliases | | ,CDGIF,FLJ14836,HBEBP2BPA,Lec35,My008,PP3958,PQLC5,SL15, |
Gene 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] |
Location | | Chromosome: 17 Locus: 17p13.1-p12 |
Gene position | | 7486965 - 7491530 Map Viewer |
Gene orientation | | plus |
Gene size | | 4566 bp |
Gene sequence |
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OMIM ID | | 604041 |