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CDC6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CDC6 gene

The CDC6 gene provides instructions for making a protein essential for DNA replication and cell division.

Normal Function

The CDC6 gene provides instructions for making a protein that is important in the copying of a cell's DNA before the cell divides (a process known as DNA replication). The protein produced from this gene, called cell division cycle 6 or CDC6, is one of a group of proteins known as the pre-replication complex. In a multi-step process, the components of this complex attach (bind) to certain regions of DNA known as origins of replication (or origins), where the process of DNA copying begins. When the pre-replication complex is attached to the origin, replication is able to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide.

Health Conditions Related to Genetic Changes

Meier-Gorlin syndrome

At least one mutation in the CDC6 gene causes Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. This mutation, which is a rare cause of the condition, changes a single protein building block (amino acid) in the CDC6 protein, replacing the amino acid threonine at position 323 with the amino acid arginine (written as Thr323Arg). As a result, assembly of the pre-replication complex is impaired, which disrupts replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which slows growth of the bones and other tissues during development. It is not known why development of the kneecaps and ears is particularly affected in Meier-Gorlin syndrome.

Other Names for This Gene

  • cdc18-related protein
  • CDC18L
  • CDC6 cell division cycle 6 homolog
  • CDC6-related protein
  • CDC6_HUMAN
  • cell division control protein 6 homolog
  • cell division cycle 6 homolog
  • HsCDC18
  • HsCDC6
  • p62(cdc6)

Frequently Asked Questions

CDC6‑related Meier‑Gorlin syndrome follows an autosomal recessive pattern. If both parents are carriers, each sibling has a 25 % chance of being affected, a 50 % chance of being a carrier, and a 25 % chance of being unaffected. Sibling testing is advised, especially if they show growth delay or ear anomalies, to enable early intervention and appropriate surveillance.
bsent or hypoplastic patellae are hallmark; this can lead to knee instability and difficulty with activities such as running or climbing stairs. Orthopedic management includes physical therapy to strengthen quadriceps, custom orthotics, and, in severe cases, surgical reconstruction of the extensor mechanism. Regular orthopedic follow‑up (annually) helps detect early joint problems.
Diagnosis relies on clinical criteria (short stature, absent or hypoplastic patellae, small ears) plus genetic testing. Targeted NGS panels for primordial dwarfism or whole‑exome sequencing will detect CDC6 variants. While the Thr323Arg missense mutation is the most frequently reported, other loss‑of‑function or missense variants in CDC6 have also been linked to the syndrome. A pathogenic variant in CDC6 confirms the diagnosis even if the classic triad is incomplete.
Children typically remain below the 5th percentile for height throughout childhood. Growth velocity may improve modestly with recombinant human growth hormone (rhGH), but response is variable and long‑term safety data are limited. Endocrinology referral is recommended before initiating therapy, and growth should be monitored every 3‑6 months.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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