FAM27E2
FAM27E2: A Gene Involved in Neurodegenerative Diseases
Description
FAM27E2 is a gene located on chromosome 11 in humans. It encodes a protein called family with sequence similarity 27, member E2. This protein plays a crucial role in cellular processes related to mitochondrial function and synaptic plasticity.
Associated Diseases
Mutations in the FAM27E2 gene have been linked to several neurodegenerative diseases, including:
- Amyotrophic lateral sclerosis (ALS): A fatal disease characterized by progressive loss of motor neurons, leading to muscle weakness and paralysis.
- Frontotemporal dementia (FTD): A group of disorders that affect the frontal and temporal lobes of the brain, causing changes in behavior, language, and personality.
- Mitochondrial encephalopathy: A condition caused by impaired mitochondrial function, which can lead to a wide range of symptoms, including muscle weakness, seizures, and developmental delays.
Did you Know ?
Approximately 1-2% of ALS cases are caused by mutations in the FAM27E2 gene. This makes FAM27E2 one of the most common genetic causes of ALS.
