TSPY10
The tspy10 Gene: A Key Player in Human Health and Disease
Description
The tspy10 gene, located on chromosome 15q23, encodes a protein known as Testis-specific Protein, Y-encoded-like 10. This protein is expressed primarily in the testes and plays a crucial role in the development and function of the male reproductive system. Tspy10 is involved in various cellular processes, including DNA repair, cell cycle regulation, and spermatogenesis.
Associated Diseases
Mutations in the tspy10 gene have been linked to several diseases, including:
- Male infertility: Studies have shown that mutations in tspy10 can lead to azoospermia (absence of sperm) or severe oligospermia (low sperm count), resulting in male infertility.
- Cryptorchidism: Tspy10 mutations are also associated with cryptorchidism, a condition where one or both testicles fail to descend into the scrotum.
- Testicular cancer: Some studies suggest that tspy10 mutations may increase the risk of developing testicular cancer. However, the exact role of tspy10 in this disease is still being investigated.
Did you Know ?
- Approximately 15-20% of all cases of azoospermia are linked to mutations in the tspy10 gene, making it a significant genetic factor in male infertility.
