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The official name of this gene is “runt-related transcription factor 2.”
RUNX2 is the gene's official symbol. The RUNX2 gene is also known by other names, listed below.
The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved in the development of cells that build bones (osteoblasts).
More than 70 mutations in the RUNX2 gene have been identified in individuals with cleidocranial dysplasia. Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations introduce a premature stop signal that results in an abnormally short protein. Occasionally, the entire gene is missing.
These genetic changes reduce or eliminate the activity of the protein produced from one copy of the RUNX2 gene in each cell, decreasing the total amount of functional RUNX2 protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes near RUNX2.
Cytogenetic Location: 6p21
Molecular Location on chromosome 6: base pairs 45,328,316 to 45,551,081
The RUNX2 gene is located on the short (p) arm of chromosome 6 at position 21.
More precisely, the RUNX2 gene is located from base pair 45,328,316 to base pair 45,551,081 on chromosome 6.
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 RUNX2 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.
acute ; acute myeloid leukemia ; amino acid ; cartilage ; cell ; DNA ; domain ; dysplasia ; enhancer ; gene ; leukemia ; myeloid ; osteoblast ; protein ; subunit ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.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.