C2orf16
c2orf16: A Gene Linked to Neurological Disorders
Description
c2orf16 is a gene located on chromosome 2p21. It encodes a protein of unknown function, but studies have implicated it in various neurological disorders.
Associated Diseases
Mutations in c2orf16 have been associated with:
- Juvenile Batten Disease: A rare inherited disorder characterized by progressive deterioration of the nervous system, leading to blindness, seizures, and cognitive decline.
- Late-Onset Tay-Sachs Disease: A variant of Tay-Sachs disease that manifests in adulthood, causing neurological symptoms such as weakness, difficulty walking, and speech impairments.
- Parkinson's Disease: A progressive neurodegenerative disorder characterized by tremors, rigidity, and impaired movement.
Did you Know ?
Approximately 1 in 50,000 individuals has a mutation in the c2orf16 gene. However, the frequency of mutations varies depending on the population and geographical region.
