KIF1A

WHAT IS IT?

KIF1A is a gene that encodes a protein from the kinesin family - transport proteins responsible for carrying various "cargo" (e.g., synaptic vesicles) along microtubules in nerve cells.

In other words: KIF1A acts like a microscopic "motor" in neurons, enabling the transport of components essential for proper nervous system function.

Mutations in the KIF1A gene are rare, but can lead to severe neurological diseases, collectively referred to as KIF1A Associated Neurological Disorder (KAND). Symptoms include movement disorders, ataxia, spasticity, neuropathies, vision problems, and developmental delays.

Dziecko z KIF1A