KIF1C

Chr 17

kinesin family member 1C

Also known as: LTXS1, SATX2, SAX2, SPAX2, SPG58

NCBI Gene: 10749 ENSG00000129250 UniProt: O43896

KIF1C encodes a kinesin motor protein required for retrograde transport of Golgi vesicles to the endoplasmic reticulum and has microtubule plus end-directed motility. Mutations cause spastic ataxia 2, an autosomal recessive disorder affecting the central nervous system with both spasticity and ataxia features. The gene shows significant constraint against loss-of-function variants (LOEUF 0.341), suggesting intolerance to protein disruption.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic ataxia 2, autosomal recessive

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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