CDC16

Chr 13

cell division cycle 16

Also known as: ANAPC6, APC6, CDC16Hs, CUT9

NCBI Gene: 8881 ENSG00000130177 UniProt: Q13042 OMIM: 603461

CDC16 encodes a component of the anaphase promoting complex/cyclosome (APC/C), an E3 ubiquitin ligase that controls cell cycle progression through mitosis and G1 phase by targeting proteins for degradation. Mutations cause autosomal recessive primary microcephaly with seizures and intellectual disability, typically presenting in infancy. The gene is highly constrained against loss-of-function variants (LOEUF 0.379), reflecting its essential role in cell division.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene functions as a protein ubiquitin ligase and is a component of the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting cell cycle proteins for degredation by the 26S proteasome. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is often involved in protein-protein interactions and the assembly of multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016]

GeneReviews OMIM 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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.38

LOEUF

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Mechanism

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GeneReview available — CDC16