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KIF5A

The KIF5A gene codes for neuronal kinesin heavy chain. The conventional kinesin motor powers intracellular movement of membranous organelles and other macromolecular cargo from the neuronal cell body to the distal tip of the axon.

- mutation in the KIF5A gene neuronal kinesin heavy chain (SPG10 locus) (12355402).

This mutations prevents stimulation of the motor ATPase by microtubule-binding. Hereditary spastic paraplegia may involve perturbation of neuronal anterograde (or retrograde) axoplasmic flow, leading to axonal degeneration, especially in the longest axons of the central nervous system.

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