TESK1
Title: The Role of TASK1 Gene in Health and Disease
Introduction:
The TASK1 gene, short for Two-pore domain Potassium channel subfamily K member 1, plays a crucial role in several physiological processes. It encodes a potassium channel protein that regulates the flow of potassium ions across cell membranes. This protein is essential for maintaining electrical balance in cells and is involved in various functions, including heart rhythm, neuronal excitability, and immune responses.
Description:
The TASK1 gene is located on chromosome 6p21.33 and spans approximately 170 kilobases. It comprises 18 exons and encodes a protein of 684 amino acids. The TASK1 protein forms a tetrameric channel that exhibits high selectivity for potassium ions. The channel is activated by membrane depolarization and is inhibited by external pH.
Associated Diseases:
Mutations in the TASK1 gene have been linked to several diseases, including:
- Cardiac Arrhythmias: TASK1 mutations can cause a rare form of inherited cardiac arrhythmia known as Brugada syndrome. This condition is characterized by an increased risk of sudden cardiac arrest due to ventricular tachycardia.
- Epilepsy: TASK1 mutations have also been associated with various types of epilepsy, including atypical absence seizures and generalized tonic-clonic seizures.
- Immune Disorders: TASK1 deficiency has been implicated in immune disorders such as rheumatoid arthritis and systemic lupus erythematosus.
Did you Know ?
Approximately 2% of individuals with Brugada syndrome have mutations in the TASK1 gene.
