CCDC67
CCDC67: A Gene Linked to a Spectrum of Health Conditions
Description
CCDC67 (Coiled-Coil Domain Containing 67) is a gene located on chromosome 4 that encodes a protein of the same name. This protein is involved in various cellular processes, including protein degradation, immune response, and signal transduction.
Associated Diseases
Mutations in the CCDC67 gene have been associated with a wide range of health conditions, including:
- Amyotrophic Lateral Sclerosis (ALS): ALS is a neurodegenerative disorder that affects the motor neurons responsible for controlling muscle movement. Mutations in CCDC67 have been identified as a genetic risk factor for developing ALS.
- Frontotemporal Dementia (FTD): FTD is a dementia characterized by progressive impairment of the frontal and temporal lobes of the brain. CCDC67 mutations have been linked to certain forms of FTD, specifically the behavioral variant (bvFTD).
- Parkinson's Disease: Parkinson's disease is a neurodegenerative disorder that affects movement. While mutations in CCDC67 are not a major cause of Parkinson's, they have been associated with an increased risk of developing the condition.
- Multiple System Atrophy (MSA): MSA is a rare neurodegenerative disorder that affects multiple body systems. Mutations in CCDC67 have been linked to a specific type of MSA known as parkinsonism-predominant MSA.
- Other Conditions: CCDC67 mutations have also been associated with other conditions, such as intellectual disability, autism spectrum disorder, and schizophrenia.
Did you Know ?
Approximately 1 in 10 individuals with ALS carry a mutation in the CCDC67 gene. This makes CCDC67 one of the most common genetic risk factors for ALS.
