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KIF1A

Gene

kinesin family member 1A

HGNCHGNC:888EnsemblENSG00000130294NCBI Gene547
Locus: gene with protein productLocation: 2q37.3

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asATSV · C2orf20 · SPG30 · UNC104
View full nomenclature history (7)
Previous symbolsATSV, C2orf20, SPG30
Alias symbolsUNC104
Previous namesaxonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive)

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Hereditary sensory and autonomic neuropathy type 2
Neurodegenerative Diseases
Spastic Paraplegia, Hereditary
Genetic Diseases, Inborn

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

KinesinsPleckstrin homology domain containing

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.