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Reviewed May 2008
What is the official name of the BCOR gene?
The official name of this gene is “BCL6 corepressor.”
BCOR is the gene's official symbol. The BCOR gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the BCOR gene?
The BCOR gene provides instructions for making a protein known as the BCL6 corepressor. A corepressor is a protein that cannot attach (bind) to DNA by itself, but interacts with other DNA-binding proteins to suppress the activity of certain genes. In this case, the BCL6 corepressor partners with the DNA-binding protein produced from the BCL6 gene. The BCL6 gene plays an important role in the function and survival of certain immune system cells.
Researchers have found that the BCOR gene is active throughout the body, not just in the immune system. This widespread activity suggests that the BCL6 corepressor has other functions in addition to its interaction with the BCL6 protein. The BCL6 corepressor appears to play a critical role in early embryonic development, including the formation of the eyes and several other tissues and organs. Scientists believe that the BCL6 corepressor may also be involved in specifying the left and right sides of the body in the developing embryo.
Does the BCOR gene share characteristics with other genes?
The BCOR gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the BCOR gene related to health conditions?
Genetics Home Reference provides information about microphthalmia, which is also associated with changes in the BCOR gene.
Where is the BCOR gene located?
Cytogenetic Location: Xp11.4
Molecular Location on the X chromosome: base pairs 40,051,245 to 40,177,389
The BCOR gene is located on the short (p) arm of the X chromosome at position 11.4.
More precisely, the BCOR gene is located from base pair 40,051,245 to base pair 40,177,389 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about BCOR?
You and your healthcare professional may find the following resources about BCOR 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 BCOR gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding BCOR?
amino acid ; cell ; chromosome ; corepressor ; co-repressor ; DNA ; embryo ; embryonic ; gene ; immune system ; inheritance ; inheritance pattern ; leucine ; mutation ; protein ; recessive ; repressor ; sex chromosomes ; syndrome ; X-linked dominant ; X-linked recessive
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
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? in the Handbook.