DPAGT1

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

2 disorders 1 untyped 1 causative 11q23.3 gene with protein product

HGNC:2995 Monarch NCBI Gene 1798 ENSG00000172269 UniProt Q9H3H5 OMIM 191350

Previous symbols: DPAGT2, DPAGT. Aliases: GPT, D11S366, DGPT, ALG7, CDG-Ij.

Normal function · from ai-gene-review (Q9H3H5, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
DPAGT1-congenital disorder of glycosylation	causative germline partial loss of function	mechanism: Biallelic Hypomorphic DPAGT1 Variants animal model: Drosophila DPAGT1 RNAi rough-eye model; Gpt (Dpagt1) null mouse
Congenital Myasthenic Syndrome	untyped Causal	mechanism: NMJ Glycoprotein Glycosylation Defect subtype: CMS13 scoped to subtype: CMS13

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
DPAGT1-congenital disorder of glycosylation MONDO:0011964	AR	Definitive 2024-06-17	DPAGT1-congenital disorder of glycosylation causative

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.