Related Overviews



More Like This

Show all results sharing this subject:

  • Medicine and Health


Show Summary Details

Quick Reference

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.

Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.