TMEM55B
The tmem55b Gene: A Gateway to Understanding Neurodegenerative Diseases
Description
The tmem55b gene, located on chromosome 11, encodes a protein called Transmembrane Protein 55B (TMEM55B). This protein is essential for the proper functioning of the central nervous system (CNS). It plays a crucial role in regulating the formation and maintenance of synapses, the junctions between neurons responsible for transmitting electrical signals.
TMEM55B is highly expressed in the brain, particularly in the hippocampus, a region involved in memory and learning. Its function is to facilitate the transport of ions across neuronal membranes, maintaining the delicate balance of electrical activity within the CNS.
Associated Diseases
Mutations in the tmem55b gene have been linked to several neurodegenerative diseases, including:
- Frontotemporal dementia (FTD): A progressive brain disorder characterized by behavioral and language changes, as well as memory impairment.
- Amyotrophic lateral sclerosis (ALS): A fatal neurological disease that affects motor neurons, causing progressive muscle weakness and paralysis.
- Parkinson's disease: A movement disorder characterized by tremors, rigidity, and difficulty with balance and coordination.
Did you Know ?
Studies have shown that approximately 1 in every 200 people with FTD carries a mutation in the tmem55b gene. This makes it one of the most common genetic causes of this devastating condition.
