Gene: CHAT

Alternate names for this Gene: CHOACTASE|CMS1A|CMS1A2|CMS6

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q11.23

Description of this Gene: choline O-acetyltransferase

Type of Gene: protein-coding

rs121912815 in CHAT gene and Familial infantile myasthenia PMID 12756141 2003 Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.

PMID 11172068 2001 Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

PMID 21786365 2011 Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

PMID 28497657 2017 A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.

PMID 26080897 2015 Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

rs4838544 in CHAT gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs201479289 in CHAT gene and Myasthenic Syndromes, Congenital PMID 26080897 2015 Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

PMID 21786365 2011 Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

rs4838544 in CHAT gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.