KIF1A

The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described.

kinesin family member 1A

Motor for anterograde axonal transport of synaptic vesicle precursors. Also required for neuronal dense core vesicles (DCVs) transport to the dendritic spines and axons. The interaction calcium-dependent with CALM1 increases vesicle motility and interaction with the scaffolding proteins PPFIA2 and TANC2 recruits DCVs to synaptic sites.

Anterograde axonal transportManual Assertion Based On ExperimentTAS:ProtInc
Anterograde neuronal dense core vesicle transportISS:ARUK-UCL
Cytoskeleton-dependent intracellular transportManual Assertion Based On ExperimentIBA:GO_Central
Dense core granule cytoskeletal transportISS:UniProtKB
Microtubule-based movementManual Assertion Based On ExperimentIBA:GO_Central
Regulation of dendritic spine developmentISS:UniProtKB
Regulation of dendritic spine morphogenesisISS:UniProtKB
Retrograde neuronal dense core vesicle transportISS:ARUK-UCL
Vesicle-mediated transportManual Assertion Based On ExperimentIBA:GO_Central

Cytoplasm, cytoskeleton; Cell projection, neuron projection; Cell projection, axon; Cytoplasm, perinuclear region; Cell junction, synapse; Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle membrane. Within neuronal cells concentrated in the axon, with smaller amounts in the perinuclear and synaptic regions (By similarity).
Expressed in distal regions of neurites

Spastic paraplegia 30 (SPG30):
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG30 patients have a pure form of the disorder, limited to spastic paraplegia, whereas others may have a complicated form that includes additional features such as cognitive dysfunction, learning disabilities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Inheritance can be autosomal dominant or autosomal recessive.
Neuropathy, hereditary sensory, 2C (HSN2C):
A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs.
NESCAV syndrome (NESCAVS):
A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs.
NESCAV syndrome (NESCAVS):
An autosomal dominant neurodegenerative disorder with variable manifestations. Main features are delayed psychomotor development, progressive spasticity, intellectual disability, speech delay, and learning disabilities. Some patients never achieve ambulation. Additional variable features are cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Disease onset is in infancy or early childhood.