C1orf109
c1orf109: A Gene with Mysterious Roles in Health and Disease
Description:
c1orf109 is a gene located on chromosome 1 in humans. It encodes a protein known as FLJ25001, although its precise function remains largely unknown. Scientists have identified several intriguing associations between c1orf109 and various human conditions, prompting ongoing research into its role in health and disease.
Associated Diseases:
1. Autism Spectrum Disorder (ASD): Studies have linked variations in the c1orf109 gene to an increased risk of ASD. Mutations or deletions in this gene have been found in individuals with autism, suggesting a potential role in neurodevelopmental disorders.
2. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC): Mutations in c1orf109 have also been associated with ARVC, a rare heart condition characterized by scarring and weakening of the right ventricle. These mutations may impair the function of desmosomes, cell-cell junctions that are crucial for maintaining heart muscle integrity.
3. Prostate Cancer: Some studies have indicated that reduced expression of c1orf109 may be linked to an increased risk of prostate cancer. However, further research is needed to fully understand the relationship between this gene and cancer development.
Did you Know ?
- Mutations in c1orf109 are estimated to occur in approximately 1 in 500 individuals in the general population.
