WTH3DI
The WNT3A Gene: Unraveling Its Significance in Development and Disease
Description
The WNT3A gene is part of the WNT gene family, encoding the protein Wnt3a. This protein serves as a signaling molecule in various developmental and physiological processes. During embryogenesis, Wnt3a plays a crucial role in establishing the body's axes, forming the central nervous system, and regulating cell proliferation. In adulthood, it contributes to tissue homeostasis, bone formation, and the maintenance of stem cells.
Associated Diseases
Mutations in the WNT3A gene have been linked to several diseases, including:
- Osteogenesis imperfecta (OI): OI is a genetic disorder characterized by brittle and weak bones. Mutations in the WNT3A gene are responsible for approximately 15% of OI cases, leading to a form known as Type I OI.
- Crouzon syndrome: This rare genetic condition affects the skull, face, and limbs. It is caused by mutations in the WNT3A gene, which result in abnormal skull development, facial asymmetry, and limb deformities.
- Breast cancer: Wnt3a has been implicated in the development and progression of breast cancer. High levels of Wnt3a can promote tumor growth and metastasis.
- Glaucoma: The WNT3A gene has been linked to an increased risk of glaucoma, a condition that damages the optic nerve and can lead to vision loss.
Did you Know ?
Mutations in the WNT3A gene are estimated to occur in approximately 1 in 50,000 individuals worldwide. These mutations can range from mild to severe, depending on the specific change in the gene.
