CENPN

Chr 16

centromere protein N

Also known as: BM039, C16orf60, CENP-N, ICEN32

NCBI Gene: 55839 ENSG00000166451 UniProt: Q96H22

The protein forms part of the nucleosome-associated complex that is essential for kinetochore assembly and chromosome segregation by directly binding to CENPA nucleosomes at centromeres. Mutations cause autosomal recessive primary microcephaly with growth retardation and developmental delays. This gene is moderately constrained against loss-of-function variants, and the condition typically presents in early infancy with severe microcephaly and failure to thrive.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other proteins to the centromere. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.65

LOEUF

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Mechanism

Some data sources returned errors (1)