Kinesin family member 5A is a protein that in humans is encoded by the KIF5A gene. It is part of the kinesin family of motor proteins.[5][6][7]
This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multi-subunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10.[7]
KIF5A has been shown to interact with KLC1.[8][9]
Mutations in KIF5A have been reported to cause hereditary spastic paraplegia type 10 (SPG1).[10]
Mutations in KIF5A have also been found to cause amyotrophic lateral sclerosis.[11]
KIF5A has been shown to play a role in Alzheimer's disease by modulating the toxic effect of beta-amyloid on axonal transport of mitochondria.[12]
PDB gallery
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2kin: KINESIN (MONOMERIC) FROM RATTUS NORVEGICUS
3kin: KINESIN (DIMERIC) FROM RATTUS NORVEGICUS
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Proteins of the cytoskeleton
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See also: cytoskeletal defects |
This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it. |