2fy5: Difference between revisions
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{{STRUCTURE_2fy5| PDB=2fy5 | SCENE= }} | {{STRUCTURE_2fy5| PDB=2fy5 | SCENE= }} | ||
===Structures of ligand bound human choline acetyltransferase provide insight into regulation of acetylcholine synthesis=== | |||
{{ABSTRACT_PUBMED_17144655}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CLAT_HUMAN CLAT_HUMAN]] Defects in CHAT are the cause of congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:[http://omim.org/entry/254210 254210]]; formerly known as familial infantile myasthenia gravis 2 (FIMG2). CMSEA is an autosomal recessive congenital myasthenic syndrome. Patients have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement.<ref>PMID:11172068</ref><ref>PMID:12756141</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CLAT_HUMAN CLAT_HUMAN]] Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017144655</ref><references group="xtra"/> | <ref group="xtra">PMID:017144655</ref><references group="xtra"/><references/> | ||
[[Category: Choline O-acetyltransferase]] | [[Category: Choline O-acetyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
