2fy2

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
Line 1: Line 1:
-
[[Image:2fy2.png|left|200px]]
 
- 
{{STRUCTURE_2fy2| PDB=2fy2 | SCENE= }}
{{STRUCTURE_2fy2| PDB=2fy2 | SCENE= }}
- 
===Structures of ligand bound human choline acetyltransferase provide insight into regulation of acetylcholine synthesis===
===Structures of ligand bound human choline acetyltransferase provide insight into regulation of acetylcholine synthesis===
 +
{{ABSTRACT_PUBMED_17144655}}
-
{{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==
Line 14: Line 16:
==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 18:36, 24 March 2013

Template:STRUCTURE 2fy2

Contents

Structures of ligand bound human choline acetyltransferase provide insight into regulation of acetylcholine synthesis

Template:ABSTRACT PUBMED 17144655

Disease

[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]

Function

[CLAT_HUMAN] Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.

About this Structure

2fy2 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

Reference

  • 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
  1. ↑ 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
  2. ↑ 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

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/2fy2"
Personal tools