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KIF1A - kinesin family member 1A
- Synonym(s) : UNC104
- Previous symbols and names : ATSV, C2orf20, SPG30, axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive)
- Type : gene with protein product
- Chromosomal location : 2q37.3
- OMIM: 601255
- HGNC: 888
- UniProtKB: Q12756
- Genatlas: KIF1A
- GenCC: KIF1A
- Ensembl: ENSG00000130294
- IUPHAR-DB: -
- Reactome: Q12756
- LOVD: KIF1A
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant non-syndromic intellectual disability
ORPHA:178469 
- Disease-causing germline mutation(s) in Autosomal spastic paraplegia type 30
ORPHA:101010 - Disease-causing germline mutation(s) in PEHO syndrome
ORPHA:2836 - Disease-causing germline mutation(s) (loss of function) in Hereditary sensory and autonomic neuropathy type 2
ORPHA:970
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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