Target intelligence / Profile preview

Kinesin family member 1C (KIF1C)

Target
KIF1C
Molecular classification
Motor protein, Kinesin-3 family, Cytoskeletal protein
01

Overview

Kinesin family member 1C (KIF1C) is a dimeric, plus-end directed microtubule motor from the kinesin-3 family, facilitating transport of vesicles, lysosomes, and integrins within cells. KIF1C is regulated by protein interactions that modulate its autoinhibition and motor activity; notably, Rab6A binding controls microtubule association, while adaptors such as HOOK3 and PTPN21 enable cargo-dependent activation. Loss-of-function mutations in KIF1C underlie the neurological disorder spastic ataxia 2 (SPAX2), characterized by progressive spasticity, cerebellar dysfunction, and ataxia, with prominent involvement of the lower limbs and cerebellar neurons. Physiologically, KIF1C supports directional cargo movement, Golgi stability, and immune antigen presentation in specific cell types. There is no evidence of misspelling or ambiguity in the provided nomenclature. No small molecule or biologic drugs are currently known to therapeutically modulate KIF1C in clinical practice. Genetic testing for KIF1C variants serves as a diagnostic tool and biomarker for related hereditary neurodegenerative disorders.

Other names
Kinesin-like protein KIF1CKIAA0706LTXS1SATX2SAX2SPAX2SPG58spastic ataxia 2 (autosomal recessive)
02

Mechanism of action

not applicable (no drugs; mechanisms described for physiological partners involve regulation by interaction and release from autoinhibition via proteins such as PTPN21 and HOOK3)

03

Biological functions

Intracellular vesicle transportGolgi organizationLysosome positioningIntegrin transportPodosome dynamicsAntigen presentation
04

Disease associations

Neurodegenerative disease (spastic paraplegia, spastic ataxia 2)Motor neuron disease (less common)
05

Safety considerations

Loss-of-function mutations lead to progressive neurodegenerative symptoms; no therapeutic targeting, so direct pharmacological safety profile unknown
06

Biomarkers

KIF1C mutations (e.g. c.183G>A, c.2478del, c.2191C>T) are genetic biomarkers for spastic ataxia 2, autosomal recessive

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