TRAPPC12
Description
The TRAPPC12 gene provides instructions for making a protein that‘s part of the ‘trafficking protein particle complex 12‘ (TRAPP). This complex is essential for the movement of vesicles within cells, acting like a ‘delivery service‘ for crucial cellular components. Vesicles are tiny sacs that transport proteins, lipids, and other molecules to their correct destinations within the cell. Without proper functioning of TRAPP, the cell‘s internal transport system can become disrupted, potentially leading to various cellular problems.
Associated Diseases
- **Neurodevelopmental Disorders:** Mutations in TRAPPC12 are linked to a variety of neurodevelopmental issues, including intellectual disability, autism spectrum disorder, and epilepsy.
- **Cerebral Palsy:** In some cases, TRAPPC12 mutations are associated with cerebral palsy, a disorder affecting movement and coordination.
Did you know?
The protein encoded by TRAPPC12 is particularly crucial for the transport of lysosomes, the cell‘s ‘recycling centers.‘ Defects in TRAPPC12 can lead to the accumulation of cellular waste, impacting cell health.
