TOR2A (torsin family 2 member A) is a multifunctional gene located on chromosome 9 that encodes proteins involved in nuclear envelope homeostasis and bioactive peptide generation. Primary function: TOR2A encodes a torsin ATPase with redundant roles in maintaining nuclear envelope (NE) integrity, particularly in regulating nuclear pore complex (NPC) biogenesis 1. The protein localizes to the endoplasmic reticulum lumen and nuclear envelope, where it functions alongside LAP1 and LULL1 cofactors 1. Mechanism: TOR2A undergoes alternative splicing to generate preprosalusin, which is processed into salusin-alpha and salusin-beta peptides 2. These salusins increase intracellular calcium concentrations, induce cell mitogenesis, and produce hypotensive effects 2. Disease relevance: TOR2A variants have been investigated in dystonia pathogenesis, particularly blepharospasm (BSP), though highly deleterious variants are rare in BSP patients 345. Genome-wide association studies identified TOR2A as a locus associated with estimated glomerular filtration rate in sickle cell nephropathy 6. TOR2A was also identified in a prognostic signature for gastric cancer survival 7. Clinical significance: While TOR2A's role in NE homeostasis is established, its direct pathogenic contribution to dystonia remains indeterminate, requiring larger cohorts and functional validation.