B3GAT3
Description
The B3GAT3 gene encodes for beta-1,3-galactosyltransferase 3, an enzyme crucial for glycosylation, the process of attaching sugar molecules to proteins and lipids. Glycosylation plays a pivotal role in various cellular functions, including cell signaling, adhesion, and immune response. B3GAT3 is specifically involved in the synthesis of the Galbeta1-3GlcNAc disaccharide, a core structure found in many complex glycans. Dysregulation of B3GAT3 activity has been linked to several diseases, highlighting its importance in maintaining cellular homeostasis.
Associated Diseases
- Cancer (e.g., colorectal, breast, gastric)
- Inflammatory bowel disease (IBD)
- Neurodevelopmental disorders (e.g., autism spectrum disorder)
- Cardiovascular disease
Did you know?
B3GAT3 is highly expressed in the brain, suggesting a potential role in neuronal communication and plasticity.