CENPW

Chr 6

centromere protein W

Also known as: C6orf173, CENP-W, CUG2

NCBI Gene: 387103 ENSG00000203760 UniProt: Q5EE01

The CENPW protein is a component of inner kinetochore complexes that binds DNA and is essential for kinetochore assembly, chromosome segregation, and mitotic progression. Mutations cause autosomal recessive primary microcephaly with simplified gyral pattern, developmental delay, and intellectual disability. The gene shows moderate constraint against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA binding activity and protein heterodimerization activity. Involved in chromosome segregation; kinetochore assembly; and mitotic cell cycle. Located in kinetochore and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.93

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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