KIF3A
Understanding kif3a: A Key Gene in Human Health
Description
Kif3a, short for kinesin family member 3A, is a crucial gene that plays a vital role in various cellular processes, including cell division, vesicle transport, and neuron development. It encodes a protein known as kinesin-3, which acts as a motor protein, transporting vesicles and organelles along microtubule tracks within cells.
Associated Diseases
Mutations in the kif3a gene have been linked to several neurological and developmental disorders, including:
- Charcot-Marie-Tooth disease type 4: A group of inherited neurological disorders characterized by progressive muscle weakness and atrophy in the hands and feet.
- Spinal muscular atrophy type 10: A rare genetic disorder that causes progressive muscle weakness and loss of motor neurons.
- Congenital central hypoventilation syndrome: A life-threatening breathing disorder in newborns due to impaired development of the respiratory centers in the brain.
Did you Know ?
Approximately 1 in 50,000 individuals worldwide is affected by Charcot-Marie-Tooth disease type 4, making it the most common subtype of Charcot-Marie-Tooth disease.
