ALG14 encodes ALG14 UDP-N-acetylglucosaminyltransferase subunit (216 aa). Part of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. Highest expression in Adrenal Gland (4.3 TPM) and Nerve Tibial (3.6 TPM).

Congenital myasthenic syndrome 15 is associated with mutations in the ALG14 gene on chromosome 1.

The ALG14 protein participates in Defective ALG14 causes ALG14-CMS, Defective ALG2 causes CDG-1i, and Defective ALG14 does not transfer GlcNAc from UDP-GlcNAc to GlcNAcDOLP pathways.

ALG14 is classified as a druggable target with score 0.0.

Genetic testing for ALG14 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myasthenic syndrome 15 has been reported in the published literature.

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

No clinical trials have been registered for congenital myasthenic syndrome 15.

16 publications have been identified in PubMed for congenital myasthenic syndrome 15. Research spans Review / Meta-Analysis (25%), Epidemiology / Natural History (25%), and Case Report / Case Series (19%).

Recent Publications

• 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]

• Zhang J (2025). [PMID: 40442802](https://pubmed.ncbi.nlm.nih.gov/40442802/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Ramjattan H (2025). [PMID: 40907058](https://pubmed.ncbi.nlm.nih.gov/40907058/). *Neuromuscul Disord*. [Epidemiology / Natural History]

• Rashed HR (2025). [PMID: 41072378](https://pubmed.ncbi.nlm.nih.gov/41072378/). *Neuromuscul Disord*. [Review / Meta-Analysis]

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

• Takhman M (2025). [PMID: 41382066](https://pubmed.ncbi.nlm.nih.gov/41382066/). *BMC Neurol*. [Review / Meta-Analysis]

• Petchesi CD (2025). [PMID: 39941166](https://pubmed.ncbi.nlm.nih.gov/39941166/). *Diagnostics (Basel)*. [Case Report / Case Series]

• Petrov K (2025). [PMID: 39740234](https://pubmed.ncbi.nlm.nih.gov/39740234/). *J Physiol*. [Basic Science / Preclinical]

• Liu Y (2025). [PMID: 40704522](https://pubmed.ncbi.nlm.nih.gov/40704522/). *FASEB J*. [Basic Science / Preclinical]