C2orf71
c2orf71: A Gene of Intriguing Potential and Emerging Medical Significance
Description
c2orf71 (chromosome 2 open reading frame 71) is a human gene located on chromosome 2. It encodes a protein of unknown function, but research suggests its involvement in various cellular processes and disease pathways.
Associated Diseases
Recent studies have linked mutations in c2orf71 to several inherited diseases, including:
- Amyotrophic lateral sclerosis (ALS): Mutations in c2orf71 are a major genetic cause of familial ALS, accounting for approximately 5-10% of cases.
- Frontotemporal dementia (FTD): c2orf71 mutations are also associated with a subset of FTD cases, characterized by progressive cognitive and behavioral changes.
- Other neurodegenerative diseases: Mutations in c2orf71 have been linked to other neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease.
Did you Know ?
- 1 in 300 people carry a c2orf71 mutation, making it a relatively common genetic risk factor for neurodegenerative diseases.
