FAM27E3
The Mysterious and Versatile FAM27E3 Gene
Description
FAM27E3 is an enigmatic gene located on chromosome 10 in humans. It belongs to the FAM27 family, which consists of genes involved in various cellular processes, including membrane trafficking and cell signaling. The exact function of FAM27E3 is still being unraveled, but emerging research suggests its multifaceted role in diverse biological pathways.
Associated Diseases
Disruptions in FAM27E3 have been linked to several medical conditions, including:
- Spinocerebellar ataxia type 26 (SCA26): A rare inherited disorder characterized by progressive degeneration of the cerebellum and spinal cord, leading to problems with coordination, balance, and speech.
- Familial amyotrophic lateral sclerosis (FALS): A neurodegenerative disease that affects the motor neurons in the brain and spinal cord, causing progressive muscle weakness and atrophy.
- Alzheimer‘s disease: Although not a primary cause, variations in FAM27E3 may contribute to the development and progression of this neurodegenerative disorder.
Did you Know ?
Recent studies have shown that approximately 1 in 10,000 people carry a mutation in the FAM27E3 gene. While most mutations are rare, some are more common in certain populations.
