FAM212B
FAM212B: A Gene Linked to Multiple Neurodegenerative Diseases
Description
FAM212B (family with sequence similarity 212, member B) is a gene that encodes a protein of the same name. This protein is involved in various cellular processes, particularly in the regulation of synaptic plasticity and neuronal development. Mutations in the FAM212B gene have been associated with an increased risk of developing several neurodegenerative diseases.
Associated Diseases
1. Alzheimer's Disease (AD):
- Mutations in FAM212B have been found in individuals with late-onset AD. The protein encoded by FAM212B is involved in the regulation of amyloid-beta metabolism, which plays a key role in AD pathogenesis.
2. Parkinson's Disease (PD):
- Studies have shown an association between FAM212B mutations and an increased risk of developing PD. The exact mechanism by which FAM212B contributes to PD is still under investigation.
3. Amyotrophic Lateral Sclerosis (ALS):
- Mutations in FAM212B have also been linked to ALS, a fatal neurodegenerative disease affecting motor neurons. FAM212B is believed to play a role in maintaining the health and function of motor neurons.
Did you Know ?
According to a study published in the journal "Neurology," individuals carrying a specific mutation in the FAM212B gene have a 10-fold increased risk of developing late-onset AD. This highlights the significant role of FAM212B in the development and progression of neurodegenerative diseases.
