CHAT : choline O-acetyltransferase

Description

The CHAT gene, also known as the choline acetyltransferase gene, encodes for the enzyme choline acetyltransferase (ChAT). This enzyme plays a crucial role in the synthesis of acetylcholine, a neurotransmitter essential for muscle contraction, memory, learning, and other vital functions. ChAT catalyzes the conversion of choline and acetyl-CoA into acetylcholine, which is then released into the synapse to transmit signals between nerve cells. The CHAT gene is located on chromosome 10 and its mutations can lead to various neurological disorders.

Associated Diseases

• Myasthenia Gravis
• Congenital Myasthenic Syndromes
• Alzheimer‘s Disease
• Spinal Muscular Atrophy
• Amyotrophic Lateral Sclerosis (ALS)

Did you know?

ChAT is one of the earliest markers for the development of cholinergic neurons, which are involved in memory and learning.