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The official name of this gene is “chromatin licensing and DNA replication factor 1.”
CDT1 is the gene's official symbol. The CDT1 gene is also known by other names, listed below.
The CDT1 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 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.
Mutations in the CDT1 gene cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. These mutations alter the CDT1 protein, typically by changing single protein building blocks (amino acids) or by leading to production of an abnormally short version of the CDT1 protein. 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.
Cytogenetic Location: 16q24.3
Molecular Location on chromosome 16: base pairs 88,803,777 to 88,809,257
The CDT1 gene is located on the long (q) arm of chromosome 16 at position 24.3.
More precisely, the CDT1 gene is located from base pair 88,803,777 to base pair 88,809,257 on chromosome 16.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CDT1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; cell ; cell division ; chromatin ; DNA ; DNA replication ; gene ; protein ; short stature ; stature ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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.