C9orf62
C9orf62: A Gene Linked to Neurodegenerative Diseases
Description:
C9orf62 is a human gene located on chromosome 9p21. It encodes a protein of the same name, which is expressed in various tissues, including the brain, spinal cord, and skeletal muscle.
The C9orf62 protein has diverse functions, including:
- Protein-protein interactions
- RNA metabolism
- Autophagy (cellular recycling)
- Microtubule dynamics
Associated Diseases:
C9orf62 mutations have been strongly linked to several neurodegenerative diseases, including:
- Amyotrophic Lateral Sclerosis (ALS): ALS is a progressive neuromuscular disease characterized by muscle weakness and paralysis. Mutations in C9orf62 are the most common genetic cause of ALS, accounting for about 10-15% of familial cases.
- Frontotemporal Dementia (FTD): FTD is a neurodegenerative disorder that affects the frontal and temporal lobes of the brain, leading to changes in personality, behavior, and language. C9orf62 mutations are found in 5-10% of familial FTD cases.
- ALS-FTD Spectrum Disorders: Some individuals have symptoms of both ALS and FTD, known as the ALS-FTD spectrum disorders. C9orf62 mutations are common in these disorders.
Did you Know ?
- Over 50% of individuals with ALS or FTD who have a family history of the disease carry a C9orf62 mutation.
