DPAGT1

Chr 11AR

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

Also known as: ALG7, CDG-Ij, CDG1J, CMS13, CMSTA2, D11S366, DGPT, DPAGT

NCBI Gene: 1798 ENSG00000172269 UniProt: Q9H3H5 OMIM: 191350

The encoded enzyme catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis as an integral endoplasmic reticulum membrane protein. Autosomal recessive mutations cause congenital disorder of glycosylation type Ij and congenital myasthenic syndrome 13 with tubular aggregates. The pathogenic mechanism appears to be dominant-negative, where mutant proteins interfere with normal glycosylation processes.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital disorder of glycosylation, type IjMIM #608093

Myasthenic syndrome, congenital, 13, with tubular aggregatesMIM #614750

Clinical highlights

Gene-disease validity (ClinGen)

DPAGT1-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)

—

P/LP submissions

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P/LP missense

1.08

LOEUF

LOF

Mechanism· G2P

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GeneReview available — DPAGT1