SVIL
Description
The SVIL gene, located on chromosome 17, encodes the protein Sorting Nexin 17 (SNX17). SNX17 plays a crucial role in intracellular trafficking, a process that ensures proteins and other molecules are transported to the correct locations within a cell. It acts as a molecular sorting platform, directing the movement of cargo-containing vesicles. This protein is particularly important in the regulation of endocytosis, the process by which cells take in substances from their surroundings. Additionally, SNX17 is involved in the formation and function of the Golgi apparatus, a critical organelle for protein processing and sorting.
Associated Diseases
- **Neurodevelopmental disorders:** SNX17 mutations have been linked to a range of neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and epilepsy.
- **Cancer:** Studies suggest a potential link between SVIL gene alterations and certain types of cancers, such as breast cancer.
- **Lysosomal storage disorders:** SVIL dysfunction may contribute to the accumulation of undigested materials in lysosomes, leading to lysosomal storage disorders.
Did you know?
SNX17 is a fascinating example of how a single protein can be involved in multiple cellular processes, underscoring the intricate interconnectedness of cellular functions.
