TRAPPC6B
Description
The TRAPPC6B gene, located on chromosome 17, encodes a protein crucial for the proper functioning of the TRAPP (Transport Protein Particle) complex. This complex plays a critical role in vesicular trafficking, a fundamental cellular process involved in the movement of molecules within and between cells. TRAPPC6B specifically contributes to the assembly and regulation of the TRAPPII subcomplex, which facilitates the transport of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus, a vital step in protein processing and secretion. Mutations in the TRAPPC6B gene can disrupt these processes, leading to a range of cellular dysfunction and disease.
Associated Diseases
- Congenital Disorder of Glycosylation Type Ib (CDG-Ib): A rare genetic disorder characterized by impaired protein glycosylation due to defects in the Golgi apparatus.
- Neurodevelopmental Disorders: Mutations in TRAPPC6B have been linked to various neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and epilepsy.
Did you know?
The TRAPP complex is named after its ability to ‘trap‘ cargo molecules during the process of vesicular transport.
