The SETX gene provides instructions for making a protein called senataxin. Senataxin is produced in a wide range of tissues, including the brain, spinal cord, and muscles. Based on the structure of senataxin, researchers believe that it is one of a class of proteins called helicases, which attach to particular regions of DNA or RNA (a chemical cousin of DNA) and temporarily unwind the strands of the molecule. By unwinding the strands, helicases allow other proteins to reach the strands to perform their function. Although senataxin’s role in cells is not completely understood, it appears to be involved in the production of proteins from genes (transcription), the processing of RNA molecules, and the repair of damaged DNA.
Other Names
ALS4; AOA2; KIAA0625; SCAR1; Sen1; SETX_HUMAN
Related Genetics Topics
- Amyotrophic lateral sclerosis — MedlinePlus Genetics
- Charcot-Marie-Tooth disease — MedlinePlus Genetics
- Ataxia with oculomotor apraxia — MedlinePlus Genetics
Identifiers
- NCBI Gene: 23064
- OMIM: 608465
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
