C20orf195
Exploring c20orf195: A Gene with Intriguing Implications
Description
c20orf195 (chromosome 20 open reading frame 195) is an enigmatic gene located on chromosome 20 in humans. It encodes a protein of unknown function, characterized by its unique structural features and potential role in various biological processes.
The c20orf195 protein comprises approximately 300 amino acids and contains several conserved protein domains, including an N-terminal coiled-coil domain, a PH domain, and a C-terminal interaction motif. These domains suggest the involvement of c20orf195 in protein-protein interactions and signal transduction pathways.
Associated Diseases
Although research on c20orf195 is relatively nascent, studies have implicated its dysregulation in several diseases, including:
- Neurological disorders: Mutations in c20orf195 have been linked to neurodevelopmental disorders such as autism spectrum disorder and intellectual disability.
- Metabolic disorders: C20orf195 has been implicated in type 2 diabetes, as its expression affects glucose metabolism and insulin sensitivity.
- Cancer: Overexpression of c20orf195 has been observed in certain cancer types, suggesting its potential role in tumor growth and progression.
Did you Know ?
While the exact prevalence of c20orf195-related diseases is not yet fully established, studies have estimated that mutations in this gene contribute to around 0.5% of cases of autism spectrum disorder. This highlights the potential significance of c20orf195 in neurodevelopmental conditions.
