CHAT encodes choline O-acetyltransferase (748 aa). Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses Highest expression in Brain Caudate basal ganglia (0.8 TPM) and Brain Putamen basal ganglia (0.7 TPM).

Congenital myasthenic syndrome 6 is caused by mutations in the CHAT gene on chromosome 10.

The CHAT protein participates in Cho is acetylated to AcCho by CHAT, ARL2:GTP bind PDE6D on KRAS4B, and KRAS4B recycles to the plasma membrane pathways.

CHAT is classified as a druggable target (Druggable Genome and Enzyme categories) with score 2.3.

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

Biomarker and diagnostic research for congenital myasthenic syndrome 6 has been reported in the published literature.

Phenotype severity distribution: 3 always present features.

No clinical trials have been registered for congenital myasthenic syndrome 6.

39 publications have been identified in PubMed for congenital myasthenic syndrome 6. Research spans Case Report / Case Series (36%), Epidemiology / Natural History (23%), and Basic Science / Preclinical (15%).

Recent Publications

• Kikuchi S (2026). [PMID: 41699395](https://pubmed.ncbi.nlm.nih.gov/41699395/). *Sci Rep*. [Case Report / Case Series]

• Ivanovic V (2026). [PMID: 41940306](https://pubmed.ncbi.nlm.nih.gov/41940306/). *Front Neurol*. [Epidemiology / Natural History]

• Akçay AA (2026). [PMID: 41451794](https://pubmed.ncbi.nlm.nih.gov/41451794/). *Clinical genetics*. [Epidemiology / Natural History]

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

• Torrey K (2026). [PMID: 42247610](https://pubmed.ncbi.nlm.nih.gov/42247610/). *J Neuromuscul Dis*. [Case Report / Case Series]

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

• Rossini E (2026). [PMID: 41251564](https://pubmed.ncbi.nlm.nih.gov/41251564/). *Muscle & nerve*. [Epidemiology / Natural History]

• Bulut N (2026). [PMID: 42090667](https://pubmed.ncbi.nlm.nih.gov/42090667/). *Rev Assoc Med Bras (1992)*. [Clinical Trial Publication]

• Ramdas S (2026). [PMID: 41630153](https://pubmed.ncbi.nlm.nih.gov/41630153/). *Brain*. [Review / Meta-Analysis]

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