KIF1A

KIF1A encodes a neuron-specific kinesin-3 (Unc-104 subfamily) motor. An N-terminal motor domain with neck coil is followed by a regulatory CC1-FHA-CC2 region that controls autoinhibition and dimerization, and a C-terminal cargo-binding region ending in a PH domain. Activated KIF1A dimers move rapidly and processively toward microtubule plus ends, carrying synaptic vesicle precursors down the axon to presynaptic sites and transporting dense core vesicles in axons and dendrites, where Ca2+/calmodulin enhances cargo binding and scaffolds such as liprin-alpha and TANC2 capture vesicles at synapses. In radial glial progenitors of the developing cortex, KIF1A acts at the nuclear surface to drive basally directed interkinetic nuclear migration, opposing dynein-driven apical movement. Heterozygous and biallelic KIF1A variants cause KIF1A-associated neurological disorder, spanning spastic paraplegia (SPG30), hereditary sensory and autonomic neuropathy (HSN2C), and NESCAV syndrome with intellectual disability, optic atrophy and cerebellar atrophy.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

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