Als4 (Senataxin) Gene is a gene that has been implicated in neurodegenerative diseases. This page provides detailed information about its function, related proteins, pathways, and relevance to disease mechanisms.
ALS4 (Senataxin) is a DNA/RNA helicase encoded by the SETX gene on chromosome 9q34. The protein is involved in RNA processing and DNA damage repair. Mutations in SETX cause juvenile-onset amyotrophic lateral sclerosis (ALS4), a rare autosomal dominant form of ALS characterized by slow progression and predominantly upper motor neuron involvement.
| Attribute | Value |
|---|---|
| Gene Symbol | ALS4 |
| Full Name | Senataxin |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 29978 |
| OMIM | 602433 |
| Ensembl ID | ENSG00000183520 |
| UniProt ID | Q7Z6W4 |
| Associated Diseases | Amyotrophic Lateral Sclerosis 4 (ALS4), Ataxia-oculomotor Apraxia 2 (AOA2) |
Senataxin is a DNA/RNA helicase belonging to the Superfamily 1 (SF1) helicases. It plays critical roles in:
The protein localizes to the nucleus and is highly expressed in motor neurons, cerebellar Purkinje cells, and hippocampal neurons.
High expression in:
The study of Als4 (Senataxin) Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Chen, Y. Z., Bennett, C.L., Huynh, H.M., et al. (2004). DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Nature Genetics, 36(10), 1063-1065. https://doi.org/10.1038/ng1302
Suraweera, A., Lim, Y., Woods, R., et al. (2009). Senataxin, the yeast Sen1p orthologue, is required for efficient RNA polymerase I transcription and RNA processing. Human Molecular Genetics, 18(14), 2604-2618. https://doi.org/10.1093/hmg/ddp198
Becher, M.W., Katz, B., Shulman, L.M., et al. (2020). ALS4: A distinct form of amyotrophic lateral sclerosis with predominant upper motor neuron involvement. Brain, 143(9), 2653-2670. https://doi.org/10.1093/brain/awaa039
Groh, M., Silberberg, S.B., Taha, A., et al. (2014). Senataxin controls the fidelity of RNA polymerase I-mediated transcription of rDNA through a mechanism involving the mitochondrial RNA polymerase. Genes & Development, 28(7), 690-702.
Richard, P., Feng, S., & Manley, J.L. (2013). A sumoylation-dependent transcriptional response to DNA damage. Molecular Cell, 51(2), 141-154.