Tor1a - torsin family 1, member A (torsin A) Gene

种属: Mus musculus

同用名: DQ2; Dyt1; torsinA

关于 Tor1a

功能概要

Enables cytoskeletal protein binding activity; identical protein binding activity; and misfolded protein binding activity. Involved in several processes, including ER-associated misfolded protein catabolic process; protein localization to nucleus; and wound healing, spreading of cells. Acts upstream of or within nuclear membrane organization. Located in endoplasmic reticulum lumen and nuclear envelope. Is expressed in several structures, including alimentary system; central nervous system; hemolymphoid system gland; liver; and urinary system. Used to study focal dystonia and torsion dystonia 1. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-5 and torsion dystonia 1. Orthologous to human TOR1A (torsin family 1 member A). [provided by Alliance of Genome Resources, Apr 2022]