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Genetics Home Reference: your guide to understanding genetic conditions
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CDC6

Reviewed February 2014

What is the official name of the CDC6 gene?

The official name of this gene is “cell division cycle 6.”

CDC6 is the gene's official symbol. The CDC6 gene is also known by other names, listed below.

What is the normal function of the CDC6 gene?

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.

How are changes in the CDC6 gene related to health conditions?

Meier-Gorlin syndrome - caused by mutations in the CDC6 gene

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.

Where is the CDC6 gene located?

Cytogenetic Location: 17q21.3

Molecular Location on chromosome 17: base pairs 40,287,893 to 40,303,160

The CDC6 gene is located on the long (q) arm of chromosome 17 at position 21.3.

The CDC6 gene is located on the long (q) arm of chromosome 17 at position 21.3.

More precisely, the CDC6 gene is located from base pair 40,287,893 to base pair 40,303,160 on chromosome 17.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about CDC6?

You and your healthcare professional may find the following resources about CDC6 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CDC6 gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CDC6?

amino acid ; arginine ; cell ; cell division ; cell division cycle ; DNA ; DNA replication ; gene ; mutation ; protein ; short stature ; stature ; syndrome ; threonine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):356-9. doi: 10.1038/ng.775. (http://www.ncbi.nlm.nih.gov/pubmed/21358632?dopt=Abstract)
  • OMIM: CELL DIVISION CYCLE 6, S. CEREVISIAE, HOMOLOG OF (http://omim.org/entry/602627)
  • Fernández-Cid A, Riera A, Tognetti S, Herrera MC, Samel S, Evrin C, Winkler C, Gardenal E, Uhle S, Speck C. An ORC/Cdc6/MCM2-7 complex is formed in a multistep reaction to serve as a platform for MCM double-hexamer assembly. Mol Cell. 2013 May 23;50(4):577-88. doi: 10.1016/j.molcel.2013.03.026. Epub 2013 Apr 18. (http://www.ncbi.nlm.nih.gov/pubmed/23603117?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/990)
  • Niida H, Kitagawa M. Regulation of DNA replication licensing. Curr Drug Targets. 2012 Dec;13(13):1588-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22998185?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2014
Published: November 17, 2014