DPAGT1 encodes dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 (408 aa). UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. Highest expression in Cells Cultured fibroblasts (50.3 TPM) and Cervix Endocervix (43.7 TPM).

Congenital myasthenic syndrome 13 is associated with mutations in the DPAGT1 gene on chromosome 11.

The DPAGT1 protein participates in DPAGT1 T234Hfs*116, Defective DPAGT1 causes CDG-1j, CMSTA2, and Defective DPAGT1 does not transfer GlcNAc to DOLP pathways.

DPAGT1 is classified as a druggable target (Enzyme category) with score 5.8.

Genetic testing for DPAGT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myasthenic syndrome 13 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 1 common feature.

No clinical trials have been registered for congenital myasthenic syndrome 13.

13 publications have been identified in PubMed for congenital myasthenic syndrome 13. Research spans Epidemiology / Natural History (31%), Case Report / Case Series (23%), and Review / Meta-Analysis (15%).

Recent Publications

• McInnes A (2026). [PMID: 41058509](https://pubmed.ncbi.nlm.nih.gov/41058509/). *Hum Gene Ther*. [Gene Therapy / Novel Therapeutics]

• Akçay AA (2026). [PMID: 41451794](https://pubmed.ncbi.nlm.nih.gov/41451794/). *Clin Genet*. [Basic Science / Preclinical]

• Ramezani M (2026). [PMID: 41312578](https://pubmed.ncbi.nlm.nih.gov/41312578/). *Muscle Nerve*. [Epidemiology / Natural History]

• Della Marina A (2025). [PMID: 39948634](https://pubmed.ncbi.nlm.nih.gov/39948634/). *Acta Neuropathol Commun*. [Diagnostic / Biomarker]

• Abdullah A (2025). [PMID: 40751639](https://pubmed.ncbi.nlm.nih.gov/40751639/). *J Pak Med Assoc*. [Case Report / Case Series]

• Cossins J (2025). [PMID: 39944742](https://pubmed.ncbi.nlm.nih.gov/39944742/). *Brain Commun*. [Clinical Trial Publication]

• Yeung TMH (2025). [PMID: 41362569](https://pubmed.ncbi.nlm.nih.gov/41362569/). *Cureus*. [Case Report / Case Series]

• Shravya MS (2025). [PMID: 40219868](https://pubmed.ncbi.nlm.nih.gov/40219868/). *Am J Med Genet A*. [Epidemiology / Natural History]

• Li J (2025). [PMID: 40200352](https://pubmed.ncbi.nlm.nih.gov/40200352/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Ohno K (2025). [PMID: 40533459](https://pubmed.ncbi.nlm.nih.gov/40533459/). *J Hum Genet*. [Review / Meta-Analysis]