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]
Function:
Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.
Subcellular Location:
Membrane.
DISEASE:
Defects in MPDU1 are the cause of congenital disorder of glycosylation type 1F (CDG1F) [MIM:60936]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Similarity:
Belongs to the MPDU1 (TC 2.A.43.3) family.
Contains 2 PQ-loop domains.
SWISS:
O75352
Gene ID:
9526
Database links:
Entrez Gene: 9526 Human
Omim: 604041 Human
SwissProt: O75352 Human
Unigene: 246381 Human
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