KIFC3

Chr 16

kinesin family member C3

NCBI Gene: 3801 ENSG00000140859 UniProt: Q9BVG8

This gene encodes a minus-end directed microtubule motor protein that is involved in apically targeted transport and required for zonula adherens maintenance in cells. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and spasticity. The gene is highly constrained against loss-of-function variants (LOEUF 0.459), suggesting that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the kinesin-14 family of microtubule motors. Members of this family play a role in the formation, maintenance and remodeling of the bipolar mitotic spindle. The protein encoded by this gene has cytoplasmic functions in the interphase cells. It may also be involved in the final stages of cytokinesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

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)

—

P/LP submissions

—

P/LP missense

0.46

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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