SSX8
The ssx8 Gene: An Enigma in Cancer Development
Description
The ssx8 gene, located on the human X chromosome, encodes a protein known as SSX8. This protein belongs to the synoviolin family and plays a crucial role in various cellular processes, including DNA repair, transcription, and cell cycle regulation. SSX8 is highly conserved across species, suggesting its fundamental importance in biological systems.
Associated Diseases
Mutations and dysregulation of the ssx8 gene have been implicated in several human diseases, including:
- Synovial Sarcoma: A rare and aggressive type of cancer that forms in the lining of joints and tendons.
- Other Sarcomas: Including bone and soft tissue sarcomas.
- Chronic Myeloid Leukemia (CML): A blood cancer characterized by the presence of the Philadelphia chromosome.
- Infertility: In some cases, ssx8 mutations can impair sperm production and contribute to male infertility.
Did you Know ?
Approximately 90% of synovial sarcomas harbor a specific translocation event that fuses the ssx8 gene with the ssx2 gene, leading to the formation of the SSX2-SSX8 fusion protein. This translocation is considered a hallmark of this cancer type.
