KIF4A
KIF4A: An Essential Gene for Brain Function
Description
KIF4A is a motor protein that transports vesicles and organelles along microtubules within cells. It plays a crucial role in various cellular processes, including neuronal development, synaptic function, and axon growth and maintenance.
Associated Diseases
Mutations in the KIF4A gene have been linked to several neurodegenerative and developmental disorders, including:
- Charcot-Marie-Tooth disease type 2A (CMT2A): A hereditary disorder characterized by progressive muscle weakness and atrophy in the feet, hands, and legs.
- Hereditary spastic paraplegia type 30 (SPG30): A rare neurodegenerative disorder that affects the spinal cord, causing muscle stiffness and weakness in the legs.
- Amyotrophic lateral sclerosis (ALS): A fatal neurodegenerative disorder that causes progressive muscle loss and paralysis.
- Alzheimer's disease: Mutations in KIF4A have been found in some cases of Alzheimer's disease, suggesting a possible role in the development of the disease.
Did you Know ?
Approximately 1 in 5,000 individuals is affected by CMT2A, making it the most common type of inherited neuropathy.
