MPDU1

Chr 17AR

mannose-P-dolichol utilization defect 1

Also known as: CDGIF, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15, SLC66A5

NCBI Gene: 9526 ENSG00000129255 UniProt: O75352 OMIM: 604041

The encoded endoplasmic reticulum membrane protein is required for normal utilization of mannose-dolichol phosphate in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors. Mutations cause congenital disorder of glycosylation type If, which follows autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation (pLI <0.001, LOEUF 1.31).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital disorder of glycosylation, type IfMIM #609180

Clinical highlights

Gene-disease validity (ClinGen)

MPDU1-congenital disorder of glycosylation · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.31

LOEUF

LOF

Mechanism· G2P