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CHEK2
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CHEK2CHK2 checkpoint homolog (S. pombe) What is the normal function of the CHEK2 gene?The CHEK2 gene is believed to be a tumor suppressor gene. This means that the protein made by the gene regulates the cycle of cell division by keeping cells from growing and dividing too fast or in an uncontrolled way. The CHEK2 protein is activated when the DNA in a cell becomes damaged or when DNA strands break. DNA can be damaged by radiation or chemicals, but breaks in DNA strands also occur naturally when chromosomes exchange genetic material. The CHEK2 protein interacts with another tumor suppressor, tumor protein p53 (made by the TP53 gene), to stop the cycle of cell division in response to DNA damage. The CHEK2 protein also regulates the protein made by the BRCA1 gene (a tumor suppressor gene associated with an increased risk of breast cancer). These proteins play important roles in determining whether a damaged cell will undergo programmed cell death (apoptosis) or repair the damaged DNA. This process prevents cells with mutated or damaged DNA from dividing, which helps prevent the development of tumors. What conditions are related to the CHEK2 gene?
Where is the CHEK2 gene located?22q12.1
The CHEK2 gene is located on the long (q) arm of chromosome 22 at position 12.1. See How do geneticists indicate the location of a gene? in the Handbook. Where can I find information about CHEK2?You and your healthcare professional may find the following resources about CHEK2 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 CHEK2 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 CHEK2?apoptosis ; cancer ; cell division ; chromosome ; deletion ; DNA ; DNA damage ; gene ; homologs ; kinase ; mutation ; nucleotide ; osteosarcoma ; prostate ; protein ; Radiation ; serine ; sporadic ; threonine ; tumor ; tumor suppressor gene You may find definitions for these and many other terms in the Genetics Home Reference 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? in the Handbook. |