FUT8
Description
The FUT8 gene provides instructions for making an enzyme called alpha-1,6-fucosyltransferase. This enzyme is crucial for the synthesis of a specific sugar molecule, fucose, onto other sugar chains. This process, known as glycosylation, plays a vital role in various biological functions, including cell-cell interactions, immune responses, and inflammation. FUT8 is particularly important in the development of the brain and nervous system.
Associated Diseases
- **Leukocyte Adhesion Deficiency Type II (LAD II)**: This rare genetic disorder results from mutations in the FUT8 gene, leading to impaired immune function due to a deficiency in fucosylation.
- **Cancer**: Some studies suggest a link between FUT8 gene variations and certain types of cancer, indicating a potential role in tumor development and progression.
- **Neurodevelopmental Disorders**: Altered FUT8 activity has been associated with neurodevelopmental disorders such as autism spectrum disorder, suggesting a connection between glycosylation and brain function.
Did you know?
The FUT8 gene is involved in the production of the 'H antigen', a critical component of the ABO blood group system, which determines a person's blood type.