C6orf195
C6orf195: An Intriguing Gene with Multifaceted Roles and Disease Implications
Description
C6orf195 (chromosome 6 open reading frame 195) is a human gene located on chromosome 6. It encodes a protein of unknown function, designated as C6orf195 protein or FLJ40804 protein. Despite its enigmatic nature, C6orf195 has garnered significant attention in the scientific community due to its potential involvement in various diseases.
Associated Diseases
Intriguingly, mutations in C6orf195 have been linked to a range of disorders, including:
- X-linked intellectual disability (XLID): Mutations in C6orf195 have been identified in males with XLID, characterized by impaired intellectual function.
- Parkinson's disease (PD): C6orf195 has been implicated in the development of PD, a neurodegenerative disorder affecting movement.
- Schizophrenia: Studies have suggested that variations in C6orf195 may increase the risk of schizophrenia, a mental disorder.
- Obesity: Research indicates that C6orf195 may play a role in regulating body weight, with certain genetic variants associated with obesity.
- Cancer: Some studies have linked alterations in C6orf195 to the formation and progression of certain types of cancer, such as lung cancer and melanoma.
Did you Know ?
Approximately 1 in 500 males is affected by XLID, with mutations in C6orf195 accounting for about 5% of XLID cases.
