CENPF

Chr 1

centromere protein F

Also known as: CENF, CILD31, PRO1779, STROMS, hcp-1

NCBI Gene: 1063 ENSG00000117724 UniProt: P49454

The encoded protein is a component of the centromere-kinetochore complex that associates with kinetochores from late G2 through early anaphase and is essential for proper chromosome segregation during mitosis. Loss-of-function mutations cause Stromme syndrome, an autosomal recessive disorder characterized by intestinal atresia, microcephaly, and ocular abnormalities. The pathogenic mechanism involves de novo dominant effects despite the recessive inheritance pattern.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtStromme syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.73

LOEUF

LOF

Mechanism· G2P

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GeneReview available — CENPF