WDTC1
The WDTCC1 Gene: Understanding Its Role in Health and Disease
Description
The WDTCC1 gene, also known as WD repeat and coiled-coil containing 1, is located on chromosome 11p15. It encodes a protein that plays a crucial role in cellular signaling, specifically in the Wnt signaling pathway. The Wnt pathway is essential for various developmental processes, including cellular proliferation, differentiation, and migration.
Associated Diseases
Mutations in the WDTCC1 gene have been linked to several human diseases, including:
- Polycystic Ovary Syndrome (PCOS): PCOS is a common hormonal disorder that affects women of reproductive age. It is characterized by irregular menstrual cycles, infertility, and the presence of ovarian cysts.
- Ovarian Cancer: WDTCC1 mutations have been identified in a subset of ovarian cancer patients. These mutations may contribute to the development and progression of the disease.
- Endometrial Cancer: Mutations in WDTCC1 have also been associated with an increased risk of endometrial cancer, a cancer of the lining of the uterus.
Did you Know ?
Studies have shown that mutations in the WDTCC1 gene occur in approximately 1-2% of PCOS patients. This suggests that WDTCC1 may play a significant role in the development and progression of PCOS.
