TMEM194B
The tmem194b Gene: Its Role in Neurodegenerative Diseases and Beyond
Description
The tmem194b gene, located on chromosome 17p13, encodes a protein called transmembrane protein 194B (TMEM194B). TMEM194B is a member of the lysosomal integral membrane protein family, which plays a crucial role in cellular homeostasis and waste disposal. The protein is highly expressed in the brain, particularly in neurons and glial cells, suggesting its importance in neuronal function and survival.
Associated Diseases
TMEM194B has been implicated in various neurodegenerative diseases, including:
- Alzheimer's disease: TMEM194B mutations have been linked to early-onset Alzheimer's disease.
- Parkinson's disease: Mutations in the tmem194b gene have been associated with an increased risk of Parkinson's disease.
- Amyotrophic lateral sclerosis (ALS): TMEM194B has been found to be reduced in ALS patients, suggesting its involvement in motor neuron degeneration.
Did you Know ?
A large-scale genetic study found that a specific variant in the tmem194b gene was associated with a 50% increased risk of developing Alzheimer's disease.
