RADIL
The Radil Gene: A Comprehensive Guide
Introduction
The Radil gene, located on chromosome 17, plays a crucial role in human health and disease. It encodes the protein RADIL, which is involved in various cellular processes, including DNA repair, transcription, and cell cycle regulation. Recent research has shed light on the significance of the Radil gene in understanding and treating certain diseases.
Description
The Radil gene comprises 22 exons and spans approximately 140 kilobases of DNA. It codes for a protein of 5,498 amino acids, which contains several important domains:
- Helicase domain: Unwinds DNA double helices, facilitating DNA repair and transcription.
- ATPase domain: Provides energy for the helicase activity.
- BRCT domain: Interacts with other proteins involved in DNA repair and cell cycle checkpoints.
Associated Diseases
Mutations in the Radil gene have been linked to several diseases, including:
- Fanconi Anemia: A rare inherited disorder characterized by bone marrow failure, developmental defects, and an increased risk of cancer.
- Breast Cancer: Certain mutations in the Radil gene have been associated with an increased risk of breast cancer, particularly in women with a family history of the disease.
- Ovarian Cancer: Studies have found a correlation between specific mutations in the Radil gene and the development of ovarian cancer.
- Head and Neck Squamous Cell Carcinoma: Mutations in the Radil gene have been implicated in the development and progression of this type of cancer.
Did you Know ?
Individuals with Fanconi Anemia caused by Radil gene mutations typically have a 5% chance of survival past the age of 20 without a bone marrow transplant.
