CENPO

Chr 2

centromere protein O

Also known as: CENP-O, ICEN-36, MCM21R

NCBI Gene: 79172 ENSG00000138092 UniProt: Q9BU64 OMIM: 611504

The protein is a component of the interphase centromere complex that localizes to centromeres throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation, and checkpoint signaling during mitosis. Mutations cause primary microcephaly with seizures and developmental delay, following autosomal recessive inheritance. The gene shows minimal constraint against loss-of-function variants (very low pLI), consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.30

LOEUF

Mechanism· predicted