CHAT

Name

choline O-acetyltransferase

Type

protein-coding

Position

49,609,095–49,667,942 (+)

Aliases

CHOACTASE, CMS1A, CMS1A2, CMS6

Ensembl

ENSG00000070748

RefSeq RNA

NM_001142929.2, NM_001142933.2, NM_001142934.2, NM_020549.5, NM_020984.4

RefSeq protein

NP_001136401.2, NP_001136405.2, NP_001136406.2, NP_065574.4, NP_066264.4

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].

via MyGene.info

Gene · Ensembl

choline O-acetyltransferase

Symbol

CHAT

Biotype

Protein coding

Organism

Homo sapiens

Location

10:49,609,095-49,667,942

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Image

Protein CHAT PDB 2fy2.png

via Wikidata · CC0