Kinesin-like protein KIF1C is a protein that in humans is encoded by the KIF1Cgene.[5][6]
Kif1C is a fast, plus-end directed microtubule motor.[7] It takes processive 8nm steps along microtubules and can generate forces of up to 5 pN.[8] Kif1C transports α5β1-integrins in human cells.[9] Kif1C has been shown to be non-essential in mouse with other proteins able to perform the same function.[10] However, mutations in KIF1C lead to spastic paraplegia and cerebellar dysfunction in humans.[11][12][13][14] These mutations usually result in a total loss of the protein or (partial) loss of function, such as significant lower force output.[15]
^Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, et al. (February 2014). "KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction". Journal of Medical Genetics. 51 (2): 137–42. doi:10.1136/jmedgenet-2013-102012. PMID24319291. S2CID24214406.
^Yücel-Yılmaz D, Yücesan E, Yalnızoğlu D, Oğuz KK, Sağıroğlu MŞ, Özbek U, et al. (June 2018). "Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span". Brain & Development. 40 (6): 458–464. doi:10.1016/j.braindev.2018.02.013. PMID29544888. S2CID3892411.
