EXOC2
Description
The EXOC2 gene provides instructions for making a protein called exocyst complex component 2. This protein is part of a larger complex called the exocyst, which plays a vital role in exocytosis. Exocytosis is the process by which cells release substances, like hormones and neurotransmitters, from their interiors to the outside. The exocyst complex acts like a docking station, guiding transport vesicles carrying these substances to the cell membrane for release. The EXOC2 gene‘s proper functioning is critical for various cellular processes, including neuronal communication, immune responses, and cell growth.
Associated Diseases
- **Neurodevelopmental Disorders:** Mutations in EXOC2 have been linked to intellectual disability, autism spectrum disorder, and epilepsy.
- **Immune System Abnormalities:** Disruptions in EXOC2 function can lead to compromised immune responses, potentially increasing susceptibility to infections.
- **Cancer:** Some studies suggest a possible association between EXOC2 variations and certain types of cancer, but further research is needed.
- **Other Conditions:** EXOC2 defects have also been implicated in disorders affecting the kidneys, heart, and other organs.
Did you know?
The exocyst complex is remarkably conserved across different species, indicating its essential role in fundamental cellular processes.
