FAM9C
FAM9C: A Gene with Complex Roles in Health and Disease
Description
FAM9C (Family with Sequence Similarity 9, Member C) encodes a protein, which is a component of the FAT10 complex, a large multi-protein complex that plays a crucial role in the regulation of gene expression and cell growth. FAM9C is highly conserved across species, suggesting its importance for fundamental cellular processes.
Associated Diseases
FAM9C mutations have been associated with a range of human diseases, including:
- Neurodevelopmental disorders: FAM9C mutations have been linked to intellectual disability, autism spectrum disorder, and epilepsy.
- Cancer: FAM9C alterations have been implicated in the development of various cancers, including breast cancer, lung cancer, and esophageal cancer.
- Cardiovascular diseases: FAM9C mutations have been associated with an increased risk of coronary artery disease and stroke.
- Metabolic disorders: FAM9C mutations have been linked to obesity, insulin resistance, and type 2 diabetes.
Did you Know ?
According to a recent study, individuals with certain FAM9C mutations have a 20-fold increased risk of developing breast cancer compared to the general population. This underscores the significant role that FAM9C plays in tumor suppression and cancer prevention.
