CDC6

Chr 17AR

cell division cycle 6

Also known as: CDC18L, HsCDC18, HsCDC6, MGORS5

NCBI Gene: 990 ENSG00000094804 UniProt: Q99741 OMIM: 602627

CDC6 encodes a protein that regulates the initiation of DNA replication and participates in cell cycle checkpoint controls to ensure DNA replication is completed before mitosis begins. Mutations cause Meier-Gorlin syndrome, an autosomal recessive disorder characterized by primordial dwarfism, microtia, and absent or underdeveloped patellae. The gene is extremely intolerant to loss-of-function variants, indicating that proper CDC6 function is essential for normal human development.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Meier-Gorlin syndrome 5MIM #613805

Clinical highlights

Gene-disease validity (ClinGen)

Meier-Gorlin syndrome 5 · ARLimitednot for standalone diagnostic reporting

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

1.00

LOEUF

LOF

Mechanism· G2P