TBCK

Description

The TBCK gene (Transmembrane B Cell Receptor Kinase) encodes a protein that plays a crucial role in cellular stress response and mitochondrial function. This protein is involved in regulating apoptosis, autophagy, and mitochondrial dynamics. TBCK interacts with various cellular components, including mitochondria, endoplasmic reticulum, and the cytoskeleton, influencing cellular homeostasis. Mutations in TBCK have been linked to several neurodegenerative diseases, highlighting its importance in maintaining neuronal health.

Associated Diseases

• Parkinson‘s disease
• Alzheimer‘s disease
• Amyotrophic lateral sclerosis (ALS)
• Huntington‘s disease
• Spinal muscular atrophy

Did you know?

TBCK protein is found in high concentrations in the brain, suggesting its significant role in neuronal function and survival.