KIAA0100
kiaa0100: Unraveling the Enigma of a Key Protein in Neurodegenerative Diseases
Description
KIAA0100 is a protein that plays a crucial role in the healthy functioning of the nervous system. It is primarily involved in regulating the transport of proteins and other molecules within neurons. This intricate process is vital for the proper communication and signaling between neurons, which underlies all cognitive functions.
Associated Diseases
KIAA0100 mutations have been linked to several neurodegenerative diseases, including:
- Amyotrophic lateral sclerosis (ALS): A progressive disease that affects the motor neurons, leading to muscle weakness and paralysis.
- Frontotemporal dementia (FTD): A diverse group of brain disorders that primarily affect the frontal and temporal lobes of the brain, resulting in behavioral and language impairments.
- Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and impaired movement.
Did you Know ?
Approximately 1-3% of ALS cases are attributed to mutations in KIAA0100, highlighting its significant role in the development of this devastating disease.