CENPU

Chr 4

centromere protein U

Also known as: CENP50, CENPU50, KLIP1, MLF1IP, PBIP1

NCBI Gene: 79682 ENSG00000151725 UniProt: Q71F23

The protein is a component of the CENPA-NAC complex that assembles kinetochore proteins and ensures proper chromosome segregation during mitosis, and serves as a scaffold for PLK1 localization to kinetochores. Mutations cause primary microcephaly with seizures and developmental delay, following an autosomal recessive inheritance pattern. This gene shows very low constraint against loss-of-function variants, which is consistent with the recessive disease mechanism.

ResearchSummary from RefSeq, UniProt

The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.98

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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