The TOR1A gene (also known as DYT1) provides instructions for making a protein called torsinA. This protein is found in the space between two neighboring structures within cells, the nuclear envelope and the endoplasmic reticulum. The nuclear envelope surrounds the nucleus and separates it from the rest of the cell. The endoplasmic reticulum processes proteins and other molecules and helps transport them to specific destinations either inside or outside the cell. Although little is known about the function of torsinA, studies suggest that it may help process and transport other proteins. TorsinA may also play a role in stress response signaling.
TorsinA is active in many of the body’s tissues, and it is particularly important for the normal function of nerve cells (neurons) in the brain. For example, researchers have found high levels of torsinA in a part of the brain called the substantia nigra. This region contains neurons that produce dopamine, a chemical messenger that transmits signals within the brain to produce smooth physical movements.
Other Names
Dystonia 1 protein; DYT1; TOR1A_HUMAN; Torsin-1A; torsinA
Related Genetics Topics
- Early-onset primary dystonia — MedlinePlus Genetics
- Benign essential blepharospasm — MedlinePlus Genetics
Identifiers
- NCBI Gene: 1861
- OMIM: 605204
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
