LOC400558
Loc400558: A Comprehensive Guide
Description
Loc400558 is a protein-coding gene that plays a crucial role in the maintenance of the blood-brain barrier (BBB), a highly selective and protective barrier that separates the central nervous system from the rest of the body. The BBB regulates the entry and exit of molecules, ions, and cells, ensuring the proper functioning and protection of the brain.
Loc400558 is located on chromosome 16 in humans and encodes a protein known as transmembrane protein 166 (TMEM166). TMEM166 is a member of the TMEM16 family of proteins, which are characterized by their multiple transmembrane domains and their role in ion transport.
Associated Diseases
Mutations in the Loc400558 gene have been linked to several neurodegenerative diseases, including:
- Amyotrophic lateral sclerosis (ALS): A progressive neurodegenerative disease that affects motor neurons, leading to muscle weakness and paralysis.
- Frontotemporal dementia (FTD): A group of neurodegenerative diseases characterized by progressive cognitive and behavioral changes.
- Alzheimer's disease
- Parkinson's disease
These mutations can disrupt the normal function of TMEM166 and lead to the loss of BBB integrity, allowing toxic substances to enter the brain and causing neuronal damage.
Did you Know ?
In a study published in the journal "Neurology," researchers found that mutations in the Loc400558 gene accounted for approximately 5% of familial ALS cases and 2% of sporadic ALS cases. This suggests that Loc400558 may play a significant role in the development of ALS.
