FAM206A
FAM206A: A Gene with Diverse Roles and Clinical Implications
Description
FAM206A (family with sequence similarity 206 member A) is a gene that encodes a protein of the same name. The FAM206A protein is involved in various cellular processes, including mRNA translation, cell cycle regulation, and apoptosis. It is highly expressed in the brain, heart, and skeletal muscle.
Associated Diseases
Mutations in the FAM206A gene have been linked to the following diseases:
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal neurodegenerative disease that affects the neurons responsible for controlling voluntary muscle movement. Mutations in FAM206A are associated with approximately 1-2% of familial ALS cases.
- Frontotemporal dementia (FTD): FTD is a group of neurodegenerative diseases that affect the frontal and temporal lobes of the brain, leading to behavioral and cognitive changes. FAM206A mutations account for approximately 4-6% of familial FTD cases.
- Alzheimer's disease (AD): AD is a common neurodegenerative disease characterized by memory loss and cognitive decline. While FAM206A mutations are not considered a major cause of AD, they have been associated with an increased risk of developing the disease.
- Myopathy with excessive autophagy (MEA): MEA is a rare inherited muscle disease that causes weakness and muscle wasting. Mutations in FAM206A are the most common genetic cause of MEA.
- Other diseases: FAM206A mutations have also been associated with a range of other conditions, including Parkinson's disease, epilepsy, and congenital heart defects.
Did you Know ?
A large-scale study involving over 100,000 individuals found that a specific variation in the FAM206A gene was associated with a 15% increased risk of developing ALS. This suggests that even small changes in FAM206A function can have a significant impact on ALS risk.
