RNF141
The RNF141 Gene: An Essential Player in Genome Stability
Description
The RNF141 gene (Ring Finger Protein 141) is a crucial gene involved in maintaining the stability and integrity of our genetic material, DNA. It encodes for a protein called RNF141, which plays a critical role in the DNA damage response pathway.
RNF141 is involved in a process called ubiquitination, where it adds a small protein tag called ubiquitin to other proteins. This tagging process is essential for targeting damaged DNA for repair or destruction. When DNA is damaged by environmental factors or cellular processes, RNF141 ubiquitinates the damaged DNA, attracting repair proteins and initiating the repair process.
Associated Diseases
Mutations in the RNF141 gene have been linked to several diseases, including:
- Fanconi Anemia: A rare genetic disorder that affects the bone marrow, leading to bone marrow failure, birth defects, and increased cancer risk.
- Schimke Immune-Osseous Dysplasia: A rare condition characterized by short stature, immune deficiencies, and bone abnormalities.
- Breast and Ovarian Cancer: Certain mutations in the RNF141 gene have been associated with an increased risk of developing these types of cancer.
Did you Know ?
According to studies, germline mutations (inherited mutations) in the RNF141 gene are found in approximately 1 in 100,000 people. However, the frequency of somatic mutations (mutations acquired during an individual's lifetime) in the RNF141 gene in cancer cells is much higher, suggesting its role in the development of certain cancers.
