kinesin family member 1A
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset hereditary spastic paraplegia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFamilial dysautonomia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalHereditary neuropathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal+7 more panels — install the extension to see the full list inline on any page.
intellectual disability, autosomal dominant 9
hereditary spastic paraplegia 30
Autosomal recessive spastic paraplegia type 30
neuropathy, hereditary sensory, type 2C
spastic paraplegia 30A, autosomal dominant
hereditary sensory and autonomic neuropathy type 2
spastic paraplegia 30B, autosomal recessive
neurodegenerative disease
hereditary spastic paraplegia
hereditary disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Kinesin-like protein KIF1A
Kinesin motor with a plus-end-directed microtubule motor activity (By similarity). It is required for anterograde axonal transport of synaptic vesicle precursors (PubMed:33880452). 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
Curated MONDO disease pages that list KIF1A among their top associated genes.
KIF1A · Q12756
Mean pLDDT
70.5/ 100
Confident
1,690 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
