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torsin


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AAA

 

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A subfamily of the AAA family of ATPases (torsin1A, 332 aa; torsin 1B, 289 aa; torsin 2A, 321 aa; torsin 3A, 397 aa) that are associated with the endoplasmic reticulum and the nuclear envelope. An alternatively spliced form of torsin2A (242 aa) has its C-terminus processed to produce bioactive peptides, salusin-α (28 aa) and salusin-β (20 aa), which can produce hypotension and bradycardia. Mutations in torsin A are associated with early-onset torsion dystonia, a movement disorder that begins in childhood and is characterized by twisting muscle contractures which arise from altered neuronal communication in the basal ganglia.

Subjects: Medicine and Health.


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