ALG2 encodes ALG2 alpha-1,3/1,6-mannosyltransferase (416 aa). Mannosyltransferase 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 (46.5 TPM) and Cells EBV-transformed lymphocytes (40.5 TPM).

Congenital myasthenic syndrome 14 is associated with mutations in the ALG2 gene on chromosome 9.

The ALG2 protein participates in ALG2 72_75delinsSPR, Defective ALG2 causes CDG-1i, and Defective ALG14 causes ALG14-CMS pathways.

ALG2 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for ALG2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myasthenic syndrome 14 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 1 very common feature, 9 common features.

No clinical trials have been registered for congenital myasthenic syndrome 14.

21 publications have been identified in PubMed for congenital myasthenic syndrome 14. Research spans Case Report / Case Series (24%), Epidemiology / Natural History (24%), and Gene Therapy / Novel Therapeutics (19%).

Recent Publications

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

• Wang T (2026). [PMID: 41547082](https://pubmed.ncbi.nlm.nih.gov/41547082/). *Pediatric neurology*. [Epidemiology / Natural History]

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

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

• Guan J (2025). [PMID: 40768883](https://pubmed.ncbi.nlm.nih.gov/40768883/). *Brain & development*. [Case Report / Case Series]

• Akiyama M (2025). [PMID: 39913008](https://pubmed.ncbi.nlm.nih.gov/39913008/). *CEN case reports*. [Case Report / Case Series]

• Parrey AH (2025). [PMID: 41280347](https://pubmed.ncbi.nlm.nih.gov/41280347/). *American journal of neurodegenerative disease*. [Case Report / Case Series]

• Liu Y (2025). [PMID: 40704522](https://pubmed.ncbi.nlm.nih.gov/40704522/). *FASEB journal : official publication of the Federation of American Societies for Experimental Biology*. [Gene Therapy / Novel Therapeutics]

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

• AlHabsi R (2025). [PMID: 39902012](https://pubmed.ncbi.nlm.nih.gov/39902012/). *Cureus*. [Case Report / Case Series]