C10orf111
Discover the Enigmatic c10orf111: A Gene Linked to Neurological Health
Description
c10orf111 is an intriguing gene located on chromosome 10. It encodes a protein known as chromosome 10 open reading frame 111 (C10orf111), which plays a crucial role in various cellular processes. However, the precise function and significance of c10orf111 remain largely unexplored.
Associated Diseases
Studies have associated mutations or variations in c10orf111 with certain neurological disorders, including:
- Spinocerebellar Ataxia Type 25 (SCA25): A progressive neurodegenerative disorder characterized by loss of balance, coordination, and speech difficulties.
- Epilepsy with Myoclonic-Atonic Seizures (MAE): A type of epilepsy characterized by sudden, brief seizures that can cause muscle contractions and loss of consciousness.
- Intellectual Disability: Variations in c10orf111 have been linked to intellectual disability, particularly in individuals with autism spectrum disorder.
Did you Know ?
Research suggests that mutations in c10orf111 are relatively rare, affecting approximately 1 in 100,000 individuals. However, the exact prevalence of c10orf111-related disorders is still under investigation.
