KIF5A


Kinesin heavy chain isoform 5A is a protein that in humans is encoded by the KIF5A gene.
This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10.

Interactions

KIF5A has been shown to interact with KLC1.

Clinical significance

Mutations in KIF5A were reported to cause hereditary spastic paraplegia type 10 by Douglas Marchuk in 2002. In 2018, mutations in KIF5A were also found to cause amyotrophic lateral sclerosis by Bryan Traynor and John Landers. KIF5A also plays a role in Alzheimer's disease by modulating the toxic effect of beta-amyloid on axonal transport of mitochondria.