Gene: MPDU1

Alternate names for this Gene: CDGIF|HBEBP2BPA|Lec35|My008|PP3958|PQLC5|SL15|SLC66A5

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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: mannose-P-dolichol utilization defect 1

Type of Gene: protein-coding

rs104894587 in MPDU1 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If PMID 11733556 2001 A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).

PMID 11733564 2001 MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.