CENPE

Chr 4

centromere protein E

Also known as: CENP-E, KIF10, MCPH13, PPP1R61

NCBI Gene: 1062 ENSG00000138778 UniProt: Q02224

Centrosome-associated protein E is a kinesin-like motor protein that drives chromosome alignment during cell division by mediating chromosome movement along spindle microtubules and establishing stable kinetochore-microtubule attachments. Mutations cause autosomal recessive microcephaly with seizures and intellectual disability, with this gene being highly constrained against loss-of-function variants (LOEUF 0.308). The condition typically presents in early infancy with severe developmental delays and intractable epilepsy.

ResearchSummary from RefSeq, UniProt

Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly 13, primary, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)

autosomal recessive primary microcephaly · ARLimitednot for standalone diagnostic reporting

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

0.31

LOEUF· LoF intol.

Mechanism· predicted

Some data sources returned errors (1)

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