FZD6 : frizzled class receptor 6
Description
The FZD6 gene, located on chromosome 11, encodes a protein known as Frizzled-6. This protein is a crucial component of the Wnt signaling pathway, a complex network of signaling molecules involved in a vast array of biological processes, including embryonic development, cell fate determination, tissue regeneration, and cancer. FZD6 acts as a receptor for Wnt ligands, triggering intracellular signaling cascades that ultimately regulate gene expression and cellular behavior.
Associated Diseases
- **Cancer:** Mutations in FZD6 have been linked to various cancers, including colorectal cancer, breast cancer, and ovarian cancer. These mutations can lead to dysregulation of Wnt signaling, promoting uncontrolled cell growth and tumor formation.
- **Developmental Disorders:** FZD6 plays a critical role in embryonic development. Mutations in this gene can lead to developmental defects, such as craniofacial abnormalities and neural tube defects.
- **Other Diseases:** FZD6 has also been implicated in other diseases, including polycystic kidney disease, Alzheimer‘s disease, and bone disorders.
Did you know?
FZD6 is a highly conserved gene, meaning its sequence and function are remarkably similar across different species, highlighting its essential role in biological processes.
The FZD6 gene (Frizzled Class Receptor 6) provides instructions for making a protein that functions as a receptor in the Wnt signaling pathway. Wnt signaling is essential for various developmental processes, including cell growth, differentiation, and tissue patterning.
Associated Disease:
The primary disease associated with mutations in the FZD6 gene is:
- Nonsyndromic Congenital Nail Disorder 10 (NDNC10):
- This is a rare genetic disorder characterized by abnormalities in the nails, including thickening, splitting, discoloration, and separation from the nail bed (onycholysis). The mutations in FZD6 disrupt the Wnt signaling pathway, leading to impaired nail development and growth.
Other Potential Associations:
While NDNC10 is the main confirmed disease associated with FZD6 mutations, research suggests possible links to other conditions:
- Esophageal Squamous Cell Carcinoma: Some studies have explored the role of FZD6 in esophageal cancer development, but the findings are not conclusive and require further investigation.
- Neural Tube Defects: Mutations in FZD6 have been identified in some cases of neural tube defects, suggesting a potential role in early embryonic development.
- Fibrosis: FZD6 has been implicated in fibrotic processes, and its modulation might be a potential therapeutic target for fibrotic diseases.
