Kinesin-like protein KIF1A (KIF1A) (KIF1A)

Kinesin-like protein KIF1A is a high-speed, monomeric motor protein belonging to the kinesin-3 family, essential for the anterograde transport of synaptic vesicle precursors along microtubules in neurons (UniProt P33176). By converting chemical energy from ATP hydrolysis into mechanical work, KIF1A ensures the timely delivery of cargo necessary for synaptic plasticity and neuronal survival (Hirokawa et al., 2009). Mutations in the KIF1A gene are the primary cause of KIF1A-associated neurological disorder (KAND), a group of rare, progressive conditions characterized by spasticity, ataxia, and cognitive impairment (Boyle et al., 2021). Currently, there are no approved pharmacological treatments, but the protein is a major target for precision medicine, including antisense oligonucleotides (ASOs) designed to modulate protein expression (KIF1A.ORG). Understanding the structural mechanics of KIF1A is critical for developing therapies that can stabilize the motor-microtubule interaction or bypass functional deficits caused by pathogenic variants (Wegler et al., 2021).

Other names

Kinesin family member 1AUnconventional kinesin-1Axonal transporter of synaptic vesiclesSPG30MRD9HSN2C

Therapeutic strategies involve gene silencing via antisense oligonucleotides to mitigate toxic gain-of-function effects or gene replacement to address loss-of-function mutations (KIF1A.ORG; Boyle et al., 2021).