CDT1

Chr 16

chromatin licensing and DNA replication factor 1

Also known as: DUP, RIS2

NCBI Gene: 81620 ENSG00000167513 UniProt: Q9H211

CDT1 encodes a DNA replication licensing factor required for pre-replication complex assembly and also promotes stable kinetochore-microtubule attachments during mitosis. Mutations cause Meier-Gorlin syndrome 4, an autosomal recessive disorder characterized by microcephaly, short stature, and underdeveloped ears. The gene shows extremely low tolerance to loss-of-function variants (pLI near zero, LOEUF 1.2), indicating it is highly constrained and critical for normal cellular function.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMeier-Gorlin syndrome 4

Clinical highlights

Gene-disease validity (ClinGen)

Meier-Gorlin syndrome 4 · ARDefinitivesufficient evidence for diagnostic panels

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)

—

P/LP submissions

—

P/LP missense

1.22

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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