Synonyms:CDGIF, ENTREZ:9526, HBEBP2BPA, HGNC:7207, Lec35, MIM:604041, MPDU1, My008, NM_001330073, NM_004870, NP_001317002, NP_004861, NR_024603, PP3958, PQLC5, SL15, SLC66A5, XM_006721597, XM_006721598, XM_011524081, XM_024451040, XP_006721660, XP_006721661, XP_011522383, XP_024306808, mannose-P-dolichol utilization defect 1
Id:ENSG00000129255
Description:mannose-P-dolichol utilization defect 1
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]