BET1
What is the BET1 Gene?
The BET1 gene (Bet1 golgi vesicular membrane trafficking protein) provides instructions for making a protein crucial for intracellular transport. This protein acts as a traffic director, facilitating the movement of vesicles, tiny sacs carrying essential molecules, between different compartments within cells. Its primary role is in maintaining normal cellular function, particularly in the transport of vesicles from the endoplasmic reticulum (ER) to the Golgi apparatus. This efficient transport system is vital for various cellular processes, including protein secretion, membrane maintenance, and neurotransmitter release. In neurons, BET1 plays a crucial role in transporting neurotransmitters to the synapse, the junction where neurons communicate.
Associated Conditions and Diseases
Mutations in the BET1 gene have been associated with:
- Muscular Dystrophy with Epilepsy (MDE): Recent research has identified BET1 variants as a cause of MDE, a rare and devastating disorder characterized by progressive muscle weakness, seizures, and intellectual disability. The impaired vesicle transport caused by these mutations is believed to disrupt neuronal function and development. (Reference: Donkervoort S, et al. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. Neurology. 2021 Jul 20;97(3):e260-e272. doi: 10.1212/WNL.0000000000012317.)
