4cah

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Template:STRUCTURE 4cah

Contents 1 Structure of inner DysF domain of human dysferlin 2 Disease 3 Function 4 About this Structure 5 Reference

Structure of inner DysF domain of human dysferlin

Template:ABSTRACT PUBMED 24438169

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

4cah is a 1 chain structure. Full crystallographic information is available from OCA.

Reference

• Sula A, Cole AR, Yeats C, Orengo C, Keep NH. Crystal structures of the human Dysferlin inner DysF domain. BMC Struct Biol. 2014 Jan 17;14(1):3. doi: 10.1186/1472-6807-14-3. PMID:24438169 doi:http://dx.doi.org/10.1186/1472-6807-14-3