TESK2
The Tesk2 Gene: An Essential Player in Human Biology and Disease
Description
The tesk2 gene, located on chromosome 19q13.33, encodes a protein known as testis-specific kinase 2 (TESK2). This protein belongs to the Tesk family of kinases, which play crucial roles in cell signaling pathways. TESK2 is primarily expressed in the testes and is involved in spermatogenesis, the process of sperm production.
Associated Diseases
Mutations in the tesk2 gene have been linked to several inherited diseases, including:
- Testis-specific X-linked atypical teratoid/rhabdoid tumor (ATRT): An aggressive form of brain cancer that occurs exclusively in males and is often associated with mutations in the tesk2 gene.
- Premature ovarian failure: A condition characterized by the early cessation of menstruation and fertility in women. Mutations in tesk2 have been identified as a rare cause of premature ovarian failure.
- Infertility: Mutations in tesk2 have been associated with male and female infertility, affecting sperm production and egg quality, respectively.
Did you Know ?
Recent studies have shown that mutations in the tesk2 gene are responsible for approximately 5-10% of cases of testis-specific ATRT. This highlights the importance of tesk2 gene screening in males with this type of brain cancer.
