7krb
From Proteopedia
Jump to navigationJump to search
Solution Structure of the Dysferlin C2A Domain in its Calcium-bound State
| ||||||||||||
Structural highlights
DiseaseDYSF_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. FunctionDYSF_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). Contents | ||||||||||||||||||
This page was last modified 07:49, 1 May 2024.