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KIF1C

Function

Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility.

Involvement in disease

Spastic ataxia 2, autosomal recessive

SPAX2

A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated on tyrosine residues.

Sequence Similarities

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.

Tissue Specificity

Expressed in all tissues examined, with most abundant expression in heart and skeletal muscle.

Cellular localization

Alternative names

KIAA0706, KIF1C, Kinesin-like protein KIF1C

swissprot:O43896 omim:603060 entrezGene:10749