GFPT1 encodes glutamine--fructose-6-phosphate transaminase 1 (699 aa). Rate-limiting enzyme of the hexosamine biosynthetic pathway (HBP) that catalyzes the formation of glucosamine-6-phosphate from fructose-6-phosphate and glutamine, thereby controlling the flux of glucose into this pathway. Highest expression in Cells EBV-transformed lymphocytes (45.2 TPM) and Cells Cultured fibroblasts (41.9 TPM).

Congenital myasthenic syndrome 12 is caused by mutations in the GFPT1 gene on chromosome 2.

The GFPT1 protein participates in GFPT1 T147Qfs*61, Expression of GFPT1, and Defective GFPT1 does not transfer an amino group from L-Gln to F6P to form GlcN6P pathways.

GFPT1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 13.1.

Genetic testing for GFPT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myasthenic syndrome 12 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 2 common features.

No clinical trials have been registered for congenital myasthenic syndrome 12.

24 publications have been identified in PubMed for congenital myasthenic syndrome 12. Research spans Case Report / Case Series (33%), Diagnostic / Biomarker (14%), and Review / Meta-Analysis (14%).

Recent Publications

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

• Wang T (2026). [PMID: 41547082](https://pubmed.ncbi.nlm.nih.gov/41547082/). *Pediatr Neurol*. [Basic Science / Preclinical]

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

• Knio ZO (2025). [PMID: 41552218](https://pubmed.ncbi.nlm.nih.gov/41552218/). *Cureus*. [Case Report / Case Series]

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

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

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

• Amfim A (2025). [PMID: 40800064](https://pubmed.ncbi.nlm.nih.gov/40800064/). *J Biol Methods*. [Case Report / Case Series]

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

• Camelo-Filho AE (2025). [PMID: 41323224](https://pubmed.ncbi.nlm.nih.gov/41323224/). *Front Neurol*. [Diagnostic / Biomarker]