Probable helicase senataxin (SETX)

Senataxin (SETX) is an RNA/DNA helicase enzyme involved in the resolution of R-loop structures (RNA:DNA hybrids) during transcription, playing a crucial role in maintaining genome stability, repairing damaged DNA, and regulating transcription termination[1][2][3][4][6]. It interacts with key DNA repair and transcription proteins, including RNA polymerase II and BRCA1, and is necessary for proper germ cell meiotic progression[5][6]. Mutations in SETX cause the neurodegenerative disorders ataxia with oculomotor apraxia type 2 (AOA2, usually due to loss-of-function mutations) and Amyotrophic lateral sclerosis 4 (ALS4, due to gain-of-function mutations), and it may play a tumor suppressor role with links to cancer biology[1][3][4]. SETX is essential for autophagy and for preventing the accumulation of protein aggregates[2]. No clinically approved drugs currently target SETX directly, and the safety of modulating its function remains a concern due to its central role in genomic stability and neuronal survival.

Other names

SenataxinALS4KIAA0625SCAR1AOA2Sen1STEXAmyotrophic lateral sclerosis 4 proteinSEN1 homologbA479K20.2SCAN2