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4iqh

From Proteopedia

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'''Unreleased structure'''
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{{STRUCTURE_4iqh| PDB=4iqh | SCENE= }}
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===Crystal Structure Analysis of Dysferlin C2A variant 1 (C2Av1)===
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{{ABSTRACT_PUBMED_24239457}}
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The entry 4iqh is ON HOLD until Paper Publication
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==Disease==
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[[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.
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Authors: Sutton, R.B., Fuson, K.L.
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==Function==
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[[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).
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Description: Crystal Structure Analysis of Dysferlin C2A variant 1 (C2Av1)
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==About this Structure==
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[[4iqh]] is a 3 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4IQH OCA].
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==Reference==
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<ref group="xtra">PMID:024239457</ref><references group="xtra"/><references/>
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[[Category: Fuson, K L.]]
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[[Category: Sutton, R B.]]
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[[Category: Acidic phospholipid binding]]
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[[Category: C2 domain]]
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[[Category: Membrane protein]]
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[[Category: Membrane repair]]
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[[Category: Peripheral membrane protein]]

Revision as of 10:25, 18 December 2013

Template:STRUCTURE 4iqh

Contents

Crystal Structure Analysis of Dysferlin C2A variant 1 (C2Av1)

Template:ABSTRACT PUBMED 24239457

Disease

[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

[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 OCA.

Reference

  • 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

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OCA

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