4iqh: Difference between revisions
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{{STRUCTURE_4iqh| PDB=4iqh | SCENE= }} | |||
===Crystal Structure Analysis of Dysferlin C2A variant 1 (C2Av1)=== | |||
{{ABSTRACT_PUBMED_24239457}} | |||
The entry | ==Disease== | ||
[[http://www.uniprot.org/uniprot/DYSF_HUMAN DYSF_HUMAN]] Miyoshi myopathy;Distal myopathy with anterior tibial onset;Congenital myopathy, Paradas type;Autosomal recessive limb-girdle muscular dystrophy type 2B. 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. The disease is caused by mutations affecting the gene represented in this entry. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/DYSF_HUMAN DYSF_HUMAN]] Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). | |||
==About this Structure== | |||
[[4iqh]] is a 3 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4IQH OCA]. | |||
==Reference== | |||
<ref group="xtra">PMID:024239457</ref><references group="xtra"/><references/> | |||
[[Category: Fuson, K L.]] | |||
[[Category: Sutton, R B.]] | |||
[[Category: Acidic phospholipid binding]] | |||
[[Category: C2 domain]] | |||
[[Category: Membrane protein]] | |||
[[Category: Membrane repair]] | |||
[[Category: Peripheral membrane protein]] | |||