2fy3: Difference between revisions
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{{STRUCTURE_2fy3| PDB=2fy3 | SCENE= }} | {{STRUCTURE_2fy3| PDB=2fy3 | SCENE= }} | ||
===Structures of ligand bound human choline acetyltransferase provides 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]] | ||
Revision as of 04:35, 25 March 2013
Structures of ligand bound human choline acetyltransferase provides insight into regulation of acetylcholine synthesisStructures of ligand bound human choline acetyltransferase provides insight into regulation of acetylcholine synthesis
Template:ABSTRACT PUBMED 17144655
DiseaseDisease
[CLAT_HUMAN] Defects in CHAT are the cause of congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM: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.[1][2]
FunctionFunction
[CLAT_HUMAN] Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
About this StructureAbout this Structure
2fy3 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ Kim AR, Rylett RJ, Shilton BH. Substrate binding and catalytic mechanism of human choline acetyltransferase. Biochemistry. 2006 Dec 12;45(49):14621-31. PMID:17144655 doi:10.1021/bi061536l
- ↑ Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A. 2001 Feb 13;98(4):2017-22. PMID:11172068 doi:10.1073/pnas.98.4.2017
- ↑ Kraner S, Laufenberg I, Strassburg HM, Sieb JP, Steinlein OK. Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. Arch Neurol. 2003 May;60(5):761-3. PMID:12756141 doi:10.1001/archneur.60.5.761