TSKS
The TSK Gene: A Gateway to Understanding Neurodevelopmental Disorders
Description
The TSK gene, located on chromosome 1, plays a crucial role in neurodevelopment. It encodes a protein called TS kinase (TSK1), which functions as a regulator of cell growth and division. TSK1 is involved in several cellular processes, including cell cycle regulation, apoptosis, and DNA damage response.
Associated Diseases
Mutations in the TSK gene have been linked to various neurodevelopmental disorders, including:
- Microcephaly: A condition characterized by a small head size and impaired brain development.
- Intellectual disability: A range of difficulties with intellectual functioning and adaptive skills.
- Autism spectrum disorder (ASD): A developmental disorder marked by social and communication challenges.
- Congenital heart defects: Abnormalities in the structure of the heart present at birth.
Did you Know ?
- Approximately 1 in 10,000 individuals worldwide are affected by neurodevelopmental disorders associated with TSK gene mutations.
