C6orf25
c6orf25: A Gene with Enigmatic Roles in Human Health
Description
c6orf25, also known as conserved open reading frame 25, is a human gene located on chromosome 6. It encodes a protein known as C6orf25, which is highly conserved across various species, indicating its potential importance in biological processes. The protein comprises 150 amino acids and possesses a specific domain architecture, including an N-terminal transmembrane region and a C-terminal coiled-coil domain.
Associated Diseases
Mutations in c6orf25 have been linked to several human diseases:
- Inflammatory bowel disease (IBD): Studies have identified mutations in c6orf25 as a risk factor for developing both ulcerative colitis and Crohn's disease, two major forms of IBD. The exact mechanism by which these mutations contribute to IBD is still under investigation.
- Asthma: A genome-wide association study implicated variants in c6orf25 with increased susceptibility to asthma, a chronic respiratory condition characterized by airway inflammation and constriction. Research suggests that c6orf25 may play a role in immune system regulation.
- Neurological disorders: Mutations in c6orf25 have been linked to certain neurological disorders, including intellectual disability and epilepsy. These mutations may disrupt the normal function of c6orf25 in brain development or neuronal signaling.
Did you Know ?
According to a study published in the American Journal of Human Genetics, individuals with mutations in c6orf25 are approximately 2.5 times more likely to develop ulcerative colitis than those without these mutations. This finding highlights the significant impact that c6orf25 can have on disease risk.
