CHAT wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CHAT wild-type allele is located in the vicinity of 10q11.2 and is approximately 85 kb in length. This allele, which encodes choline O-acetyltransferase protein, plays a role in the synthesis of acetylcholine. Mutation of the gene is associated with congenital myasthenic syndrome with episodic apnea (familial infantile myasthenia gravis 2).

**Synonyms:** - CHOACTASE - CMS1A - CMS1A2 - Choline O-Acetyltransferase wt Allele