Table 1

Kinesin superfamily (KIF) genes implicated in neurodegenerative and neurodevelopmental diseases in humans

KIF geneDiseaseInheritanceReference
KIF1A (MIM 601255)Hereditary spastic paraplegia type 30
(MIM 610358)
Hereditary sensory neuropathy, type IIC
(MIM 614213)
Non-syndromic ID
AR
AR
AD
4 16 17
KIF1B (MIM 605995)Charcot-Marie-Tooth disease , type 2A1
(MIM 118210)
Multiple sclerosis (MIM 126200)
AD
susceptibility locus
11 18
KIF2A (MIM 602591)MCDAD19
KIF5A (MIM 602821)Hereditary spastic paraplegia type 10
(MIM 604187)
AD4 20
KIF5C (MIM 604593)MCDAD19
KIF7 (MIM 611254)Acrocallosal syndrome (MIM 200990)
Hydrolethalus syndrome (MIM 614120)
Joubert syndrome 12 (MIM 200990)
Syndromic ID
AR
AR
AR
AR
21–23
KIF11 (MIM 148760)Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MIM 152950)AD24
KIF21A (MIM 608283)Congenital opthalmoplegia (MIM 135700)AD25
  • AD, autosomal dominant; AR, autosomal recessive; ID, intellectual disability; MCD, malformations of cortical development.