4ihb: Difference between revisions
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{{STRUCTURE_4ihb| PDB=4ihb | SCENE= }} | |||
===X-RAY STRUCTURE OF THE canonical C2A DOMAIN FROM HUMAN DYSFERLIN=== | |||
{{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== | |||
[[4ihb]] is a 6 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4IHB OCA]. | |||
==Reference== | |||
<ref group="xtra">PMID:024239457</ref><references group="xtra"/><references/> | |||
[[Category: Fuson, K L.]] | |||
[[Category: Sutton, R B.]] | |||
[[Category: Beta sandwich]] | |||
[[Category: Membrane protein]] | |||
[[Category: Membrane repair]] | |||
[[Category: Muscular dystrophy]] | |||
[[Category: Plasma membrane]] | |||
[[Category: Type ii c2 domain]] | |||
Revision as of 13:20, 18 December 2013
X-RAY STRUCTURE OF THE canonical C2A DOMAIN FROM HUMAN DYSFERLINX-RAY STRUCTURE OF THE canonical C2A DOMAIN FROM HUMAN DYSFERLIN
Template:ABSTRACT PUBMED 24239457
DiseaseDisease
[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.
FunctionFunction
[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 StructureAbout this Structure
4ihb is a 6 chain structure. Full crystallographic information is available from OCA.
ReferenceReference
- ↑ Fuson K, Rice A, Mahling R, Snow A, Nayak K, Shanbhogue P, Meyer AG, Redpath GM, Hinderliter A, Cooper ST, Sutton RB. Alternate Splicing of Dysferlin C2A Confers Ca-Dependent and Ca-Independent Binding for Membrane Repair. Structure. 2013 Nov 13. pii: S0969-2126(13)00392-4. doi:, 10.1016/j.str.2013.10.001. PMID:24239457 doi:http://dx.doi.org/10.1016/j.str.2013.10.001