WNT2B
Description
The WNT2B gene, located on chromosome 12, encodes a protein that plays a critical role in cell signaling pathways involved in embryonic development, tissue regeneration, and adult homeostasis. WNT2B protein acts as a ligand, binding to Frizzled receptors on the cell surface, initiating a cascade of intracellular events that influence gene expression and cell behavior. This intricate signaling system is crucial for a wide range of developmental processes, including the formation of the nervous system, skeletal system, and cardiovascular system. In adulthood, WNT2B signaling remains active, contributing to tissue maintenance, wound healing, and the regulation of stem cell function.
Associated Diseases
- **Cancer:** Mutations in WNT2B have been linked to various cancers, including colorectal cancer, breast cancer, and melanoma. Altered WNT2B signaling can disrupt normal cell growth and contribute to tumor development.
- **Developmental Disorders:** Dysregulation of WNT2B signaling can lead to congenital malformations and developmental disorders. For example, mutations in WNT2B have been associated with craniosynostosis, a condition characterized by premature fusion of the skull bones.
- **Neurological Disorders:** WNT2B is involved in neuronal development and function. Mutations or dysregulation of WNT2B signaling have been implicated in neurodegenerative diseases, such as Alzheimer‘s disease and Parkinson‘s disease.
Did you know?
The WNT2B gene name derives from the "wingless" gene in Drosophila, which was discovered in fruit flies with wingless phenotypes. These flies exhibited mutations in the WNT signaling pathway, demonstrating its crucial role in development.
