TRAPPC2L
Description
The TRAPPC2L gene, also known as the ‘trafficking protein particle complex 2, subunit L‘ gene, plays a crucial role in cellular processes by encoding a protein involved in vesicle trafficking. This protein is a component of the TRAPP complex, which acts as a GEF (guanine nucleotide exchange factor) for the Rab GTPases. Rab proteins are essential for the proper formation, movement, and fusion of vesicles within the cell. TRAPPC2L‘s role in vesicle trafficking is vital for various cellular functions, including protein secretion, membrane biogenesis, and organelle maintenance.
Associated Diseases
- Neurodevelopmental disorders
- Intellectual disability
- Cerebellar ataxia
- Spinal muscular atrophy
- Epilepsy
- Microcephaly
- Retinitis pigmentosa
Did you know?
Mutations in the TRAPPC2L gene can lead to a wide range of neurological disorders, highlighting the critical role of proper vesicle trafficking in brain function.
