CHAT

Function

Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.

Involvement in disease

Myasthenic syndrome, congenital, 6, presynaptic

CMS6

A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the carnitine/choline acetyltransferase family.

Alternative names

• Choline O-acetyltransferase
• CHOACTase
• ChAT
• Choline acetylase
• CHAT

Database links

• entrezGene:1103
• omim:118490
• swissprot:P28329

Target type

Proteins

Primary research area

Neuroscience

Molecular weight

82536Da