C8orf46
C8orf46: A Gene with Intriguing Connections to Human Health
Description
C8orf46 (Chromosome 8 Open Reading Frame 46) is a gene located on the short arm of chromosome 8. It encodes a protein of 332 amino acids, which is highly conserved across different species. The function of C8orf46 is still not fully understood, but research suggests it plays a role in maintaining cell homeostasis and regulating immune responses.
Associated Diseases
Recent studies have linked C8orf46 to several human diseases, including:
- Rheumatoid Arthritis (RA): C8orf46 is associated with an increased risk of developing RA, an autoimmune disorder that causes inflammation and joint damage.
- Systemic Lupus Erythematosus (SLE): Research suggests that variations in C8orf46 may contribute to the development of SLE, another autoimmune disease that affects multiple organs.
- Multiple Sclerosis (MS): C8orf46 has been linked to an increased susceptibility to MS, a neurological disorder characterized by demyelination and inflammation in the central nervous system.
- Celiac Disease: Recent findings indicate that certain genetic variations in C8orf46 may increase the risk of developing celiac disease, an autoimmune disorder that triggers an immune response to gluten.
Did you Know ?
- Approximately 10% of individuals with rheumatoid arthritis have variations in the C8orf46 gene, compared to only 5% of the general population.
