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A very large (4684 aa) intermediate filament-binding protein that may provide mechanical strength to cells and tissues by acting as a crosslinking element between the intermediate and microfilament cytoskeleton. The N-terminal region has homology to the actin-binding domain of dystrophins and the C-terminal region has homology to desmoplakin. Mutations are responsible for epidermolysis bullosa simplex with various additional complications depending upon the particular mutation.

Subjects: Medicine and Health — Chemistry.

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