RNF17
The RNF17 Gene: Unveiling its Role in Health and Disease
Description
The RNF17 gene, located on chromosome 16, encodes the Ring Finger Protein 17 (RNF17). This protein belongs to the ubiquitin ligase family, which regulates protein degradation and signaling pathways within cells. RNF17 plays crucial roles in several cellular processes, including DNA repair, immune response, and cancer progression.
Associated Diseases
Mutations or alterations in the RNF17 gene have been linked to various human diseases, most notably:
- Breast Cancer: RNF17 mutations are associated with an increased risk of developing breast cancer, particularly in young women and those with a family history of the disease.
- Ovarian Cancer: Similar to breast cancer, RNF17 mutations are also linked to an elevated risk of ovarian cancer.
- Pancreatic Cancer: Inactivation of RNF17 has been implicated in the development of pancreatic cancer. Its loss contributes to tumor growth and resistance to therapies.
- Neurological Disorders: RNF17 mutations have been identified in rare neurological conditions such as hereditary spastic paraplegia and amyotrophic lateral sclerosis (ALS).
Did you Know ?
- Approximately 1 in 200 individuals worldwide are estimated to carry a mutation in the RNF17 gene, making it one of the most common cancer-related mutations.
