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]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Hamlin PJ, Jones PF, Leek JP, Bransfield K, Lench NJ, Aldersley MA, et al. (February 1999). "Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization. medjph@stjames.leeds.ac.uk".Cytogenetics and Cell Genetics.82 (3–4):267–8.doi:10.1159/000015115.PMID9858832.S2CID84466204.
Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, et al. (September 2004). "Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia".Neurology.63 (6):1108–10.doi:10.1212/01.wnl.0000138731.60693.d2.PMID15452312.S2CID10854107.
Niclas J, Navone F, Hom-Booher N, Vale RD (May 1994). "Cloning and localization of a conventional kinesin motor expressed exclusively in neurons".Neuron.12 (5):1059–72.doi:10.1016/0896-6273(94)90314-X.PMID7514426.S2CID32927183.
Macioce P, Gambara G, Bernassola M, Gaddini L, Torreri P, Macchia G, et al. (December 2003). "Beta-dystrobrevin interacts directly with kinesin heavy chain in brain".Journal of Cell Science.116 (Pt 23):4847–56.doi:10.1242/jcs.00805.PMID14600269.S2CID27097248.
