TSSK4
TSSK4 Gene: Unraveling Its Role in Health and Disease
Introduction
The TSSK4 gene, located on chromosome 11q23.1, encodes a protein called testis-specific serine kinase 4. While its primary role is in spermatogenesis (sperm production), TSSK4 has also been implicated in various cellular processes and diseases. Join us as we delve into the fascinating world of the TSSK4 gene, exploring its functions, associated diseases, and the latest research findings.
Description
TSSK4 belongs to the family of serine/threonine kinases, enzymes that play crucial roles in cellular signaling pathways. It is highly expressed in the testes and involved in the regulation of sperm motility and fertility. Additionally, TSSK4 has been found in other tissues, including the brain, heart, and kidneys, suggesting broader functions beyond reproduction.
Associated Diseases
Dysfunction of the TSSK4 gene has been linked to several health conditions:
- Infertility: Mutations in TSSK4 can cause severe male infertility due to impaired sperm motility.
- Neurological disorders: Some studies suggest an association between TSSK4 variations and neurodevelopmental disorders such as autism and schizophrenia.
- Cardiovascular disease: TSSK4 has been implicated in the development of heart failure and atherosclerosis.
- Cancer: TSSK4 overexpression has been observed in certain types of cancer, including prostate and lung cancer.
Did you Know ?
Approximately 1 in 5,000 men have a mutation in the TSSK4 gene, making it one of the most common genetic causes of male infertility.
