KIF5A
Description
The KIF5A (kinesin family member 5A) is a protein-coding gene located on chromosome 12.
KIF5A is a human gene encoding a protein that belongs to the kinesin family of motor proteins. This protein is part of a multi-subunit complex that transports intracellular organelles along microtubules. Mutations in KIF5A can cause autosomal dominant spastic paraplegia 10 (SPG10), amyotrophic lateral sclerosis, and have been implicated in Alzheimer's disease by modulating the toxic effects of beta-amyloid on axonal transport of mitochondria. KIF5A interacts with KLC1.
KIF5A is a microtubule-dependent motor protein essential for slow axonal transport of neurofilament proteins (NFH, NFM, and NFL). It can induce neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The complex formed by KIF5A and ZFYVE27 contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B, and RTN3 proteins in neurons. KIF5A is also required for the anterograde axonal transportation of MAPK8IP3/JIP3, which is critical for its function in axon elongation.
KIF5A is also known as ALS25, D12S1889, MY050, NEIMY, NKHC, SPG10.
Associated Diseases
- Autosomal dominant spastic paraplegia type 10
- Myoclonus, intractable, neonatal
- Spastic paraplegia 10, autosomal dominant
- Amyotrophic lateral sclerosis, susceptibility to, 25
