TOR1A : torsin family 1 member A

Description

The TOR1A (torsin family 1 member A) is a protein-coding gene located on chromosome 9.

The TOR1A gene 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 participate in the movement of membranes associated with the nuclear envelope and endoplasmic reticulum, and 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 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 nerve cells that produce dopamine, a chemical messenger that transmits signals within the brain to produce smooth physical movements.

The TOR1A gene, also known as DYT1, is involved in a variety of cellular processes, including protein folding, processing, stability, and localization. It helps to reduce misfolded protein aggregates and plays a role in synaptic vesicle recycling. TOR1A also interacts with the COP9 signalosome complex (CSN) to control STON2 protein stability. In the nucleus, TOR1A may link the cytoskeleton with the nuclear envelope, which is crucial for nuclear polarity, cell movement, and nuclear envelope integrity in neurons. TOR1A is involved in cellular trafficking and may regulate the subcellular location of multipass membrane proteins, such as the dopamine transporter SLC6A3, modulating dopamine neurotransmission. In the endoplasmic reticulum, TOR1A plays a role in quality control of protein folding by increasing the clearance of misfolded proteins or holding them in an intermediate state for proper refolding. TOR1A may have a redundant function with TOR1B in non-neural tissues.

TOR1A is also known as AMC5, DQ2, DYT1.

Associated Diseases

• Early-onset generalized limb-onset dystonia
• Myoclonus-dystonia syndrome
• Dystonia 1, torsion, autosomal dominant
• Arthrogryposis multiplex congenita 5
• Early-onset primary dystonia
• Benign essential blepharospasm