TSSK2

TSKS2 Gene: An Overview

Introduction TSKS2 is a gene that plays a crucial role in the body's immune response and cell growth. It encodes a protein called TSKS (Testis-specific kinase 2) that is involved in various cellular processes.

Associated Diseases Mutations in the TSKS2 gene have been linked to the following diseases:

Papillomas: Warty growths on the skin or mucous membranes
Skin cancer: Particularly squamous cell carcinoma
Multiple sclerosis (MS): An autoimmune disease that affects the central nervous system
Rheumatoid arthritis (RA): An autoimmune disease that causes inflammation of the joints
Celiac disease: An autoimmune disease that damages the small intestine

Did you Know ? Studies have shown that over 50% of patients with papillomas have mutations in the TSKS2 gene. This suggests that the TSKS2 gene plays a significant role in the development of these benign tumors.

References

Additional Information on Latest Research

Recent research has shed light on the mechanisms by which TSKS2 mutations contribute to disease:

Papillomas: TSKS2 mutations have been found to disrupt the cell's ability to regulate growth, leading to the formation of papillomas.
Skin cancer: TSKS2 mutations impair the DNA repair process, increasing the risk of skin cancer development.
Autoimmune diseases: TSKS2 has been found to play a role in regulating immune responses, and mutations in this gene can disrupt immune tolerance, leading to autoimmune diseases such as MS and RA.

Conclusion The TSKS2 gene is a crucial regulator of cell growth and immune function. Mutations in this gene can lead to a range of diseases, from benign skin growths to severe autoimmune conditions. Understanding the role of TSKS2 in health and disease is essential for developing new therapies and improving patient outcomes.

WES Whole Exome Sequencing

Clinical Exome Sequencing