CHAT
Gastrointestinal & Hepatic System · Gastrointestinal Motility & Enteric Plexus
How does CHAT help a nerve tell a muscle to move?
CHAT encodes the enzyme that makes acetylcholine at nerve endings. Muscles rely on this chemical message for normal activation, which explains why severe defects can disrupt nerve-to-muscle communication.
- Common Gene Name
- choline O-acetyltransferase
- NCBI Gene ID
- 1103
- Chromosome
- 10
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (2 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| congenital myasthenic syndrome 6 | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2025-03-24 |
| Congenital myasthenic syndromes | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2011-11 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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