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Article

Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

Human mutation - 1 Nov 2011

Shen Xin-Ming, Crawford Thomas O, Brengman Joan, Acsadi Gyula, Iannaconne Susan, Karaca Emin, Khoury Chaouky, Mah Jean K, Edvardson Shimon, Bajzer Zeljko, Rodgers David, Engel Andrew G

Abstract excerpt

Choline acetyltransferase (ChAT; EC 2.3.1.6) catalyzes synthesis of acetylcholine from acetyl-CoA (AcCoA) and choline in cholinergic neurons. Mutations in CHAT cause potentially lethal congenital myasthenic syndromes associated with episodic apnea (ChAT-CMS). Here, we analyze the functional consequences of 12 missense and one nonsense mutations of CHAT in 11 patients. Nine of the mutations are novel. We examine...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21786365
DOI: 10.1002/humu.21560
PMCID: PMC3196808

Genes

CHAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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