Choline Acetyltransferase, Rat (CHAT) Recombinant Protein

This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]

CHAT: an enzyme that catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. Four alternative splice variants have been described.

Protein type: Lipid Metabolism - glycerophospholipid; Acetyltransferase; EC 2.3.1.6

Chromosomal Location of Human Ortholog: 10q11.2

Cellular Component: mitochondrion; cell soma; axon; cytoplasm; cytosol; nucleus

Molecular Function: choline O-acetyltransferase activity

Biological Process: rhythmic excitation; muscle development; neurotransmitter secretion; glycerophospholipid biosynthetic process; adult walking behavior; synaptic transmission; rhythmic behavior; phospholipid metabolic process; dendrite development; phosphatidylcholine biosynthetic process; neuromuscular synaptic transmission; establishment of synaptic specificity at neuromuscular junction; neurotransmitter biosynthetic process

Disease: Myasthenic Syndrome, Congenital, Associated With Episodic Apnea