Kinesin-like protein KIF1C

KIF1C is a kinesin motor protein involved in intracellular cargo transport, specifically required for the retrograde movement of Golgi vesicles back to the endoplasmic reticulum along microtubules (UniProt: O43896). The protein functions as a microtubule plus end-directed motor and is expressed in neuronal tissues where such vesicular trafficking is essential.

Mutations in KIF1C are associated with spastic ataxia 2 (SPAX2), an autosomal recessive neurological disorder characterized by cerebellar ataxia, dysarthria, and lower limb spasticity, though without cognitive impairment (UniProt: O43896, MIM 611302). This genetic link highlights the protein's importance in neurological function and axonal transport.

In Alzheimer's disease, KIF1C is upregulated in post-mortem AD brain tissue compared to age-matched controls (Chaparral AD proteomics). Specifically, the protein shows a mean log2 fold-change of +0.50 across a single subcellular fraction in TMT-labeled proteomic analysis of four fractions from AD brain samples, suggesting increased expression may be associated with AD pathology.