C9orf66
C9orf66: A Gene with Diverse Roles in Health and Disease
Description
C9orf66 is a gene located on chromosome 9, which spans approximately 100,000 base pairs. It consists of 17 exons and encodes a protein of 571 amino acids. The C9orf66 protein is localized within the nucleus and is involved in regulating gene expression and chromatin organization.
Associated Diseases
Mutations in C9orf66 have been linked to several neurodegenerative and developmental disorders, including:
- Amyotrophic lateral sclerosis (ALS): C9orf66 mutations are the second most common genetic cause of ALS, an incurable neurodegenerative disease characterized by progressive loss of motor neurons.
- Frontotemporal dementia (FTD): C9orf66 mutations can also lead to FTD, a neurodegenerative syndrome affecting the frontal and temporal lobes of the brain, resulting in cognitive and behavioral symptoms.
- Infantile neuroaxonal dystrophy: A rare childhood disorder caused by C9orf66 mutations, characterized by progressive neurodegeneration and a lack of myelin formation in the central nervous system.
- Intellectual disability: Some C9orf66 mutations have been associated with intellectual disability, developmental delays, and autism spectrum disorders.
Did you Know ?
- Approximately 1 in every 500 individuals with ALS carries a mutation in the C9orf66 gene.
