COLQ encodes collagen like tail subunit of asymmetric acetylcholinesterase (455 aa). Anchors the catalytic subunits of asymmetric AChE to the synaptic basal membrane, and is therefore involved in the down-regulation of colinergic synaptic transmission Highest expression in Brain Cerebellar Hemisphere (12.2 TPM) and Brain Cerebellum (11.3 TPM).

Congenital myasthenic syndrome 5 is associated with mutations in the COLQ gene on chromosome 3.

COLQ is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

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

Phenotype severity distribution: 5 always present features.

No clinical trials have been registered for congenital myasthenic syndrome 5.

14 publications have been identified in PubMed for congenital myasthenic syndrome 5. Research spans Case Report / Case Series (21%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (21%).

Recent Publications

• Ho K (2026). [PMID: 42146855](https://pubmed.ncbi.nlm.nih.gov/42146855/). *Brain Commun*. [Gene Therapy / Novel Therapeutics]

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

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

• Petrov K (2025). [PMID: 39740234](https://pubmed.ncbi.nlm.nih.gov/39740234/). *The Journal of physiology*. [Basic Science / Preclinical]

• Amfim A (2025). [PMID: 40800064](https://pubmed.ncbi.nlm.nih.gov/40800064/). *Journal of biological methods*. [Case Report / Case Series]

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

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

• 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*. [Basic Science / Preclinical]

• Ohno K (2025). [PMID: 40533459](https://pubmed.ncbi.nlm.nih.gov/40533459/). *Journal of human genetics*. [Review / Meta-Analysis]

• Akçay AA (2025). [PMID: 41451794](https://pubmed.ncbi.nlm.nih.gov/41451794/). *Clinical genetics*. [Basic Science / Preclinical]