4jkq: Difference between revisions
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{{STRUCTURE_4jkq| PDB=4jkq | SCENE= }} | |||
===Crystal structure of the N-terminal region of the human ryanodine receptor 2=== | |||
The entry | ==Disease== | ||
[[http://www.uniprot.org/uniprot/RYR2_HUMAN RYR2_HUMAN]] Familial isolated arrhythmogenic ventricular dysplasia, right dominant form;Catecholaminergic polymorphic ventricular tachycardia;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/RYR2_HUMAN RYR2_HUMAN]] Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development.<ref>PMID:10830164</ref> <ref>PMID:20056922</ref> | |||
==About this Structure== | |||
[[4jkq]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4JKQ OCA]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Bauerova, V.]] | |||
[[Category: Sevcik, J.]] | |||
[[Category: Beta trefoil fold]] | |||
[[Category: Unknown function]] | |||
