Go Annotations as Summary Text (Tabular View) (GO Graph)

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Automated description from the Alliance of Genome Resources

Exhibits acetylcholine-gated cation-selective channel activity. Contributes to acetylcholine binding activity. Involved in regulation of membrane potential. Localizes to the acetylcholine-gated channel complex; integral component of postsynaptic specialization membrane; and neuromuscular junction. Used to study congenital myasthenic syndrome 3A. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 3A; congenital myasthenic syndrome 3B; and congenital myasthenic syndrome 3C. Is expressed in tongue intrinsic muscle transverse component; tongue intrinsic muscle vertical component; tongue muscle; trunk; and vertebral axis musculature. Orthologous to human CHRND (cholinergic receptor nicotinic delta subunit).

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Gene Ontology Evidence Code Abbreviations:

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