C1orf229
c1orf229: An Emerging Gene Associated with Neurological Disorders
Description
c1orf229 is a gene located on chromosome 1, encoding a protein known as chromosome 1 open reading frame 229 (C1orf229). It is a relatively new gene, discovered in 2004. Despite its recent identification, c1orf229 has garnered considerable interest due to its potential role in various neurological disorders.
Associated Diseases
Mutations in c1orf229 have been linked to several neurological conditions, including:
- Amyotrophic Lateral Sclerosis (ALS): ALS is a progressive neurodegenerative disorder that affects motor neurons, resulting in muscle weakness and paralysis. Studies have identified c1orf229 mutations as a significant risk factor for ALS.
- Frontotemporal Dementia (FTD): FTD is a group of degenerative brain disorders characterized by impaired behavior and language function. c1orf229 mutations are associated with a specific form of FTD known as behavioral variant FTD (bvFTD).
- Alzheimer's Disease (AD): AD is the most common form of dementia, affecting memory and cognitive function. While the exact role of c1orf229 in AD is still being investigated, some studies have suggested an association between c1orf229 mutations and an increased risk of developing the disease.
Did you Know ?
- Approximately 1 in 60 people with ALS have a mutation in the c1orf229 gene.
