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Genes in the CTS gene family provide instructions for producing proteins called cathepsins. Cathepsins function as proteases, which means that they cut apart other proteins. Cathepsins are found in many types of cells and are typically located in lysosomes, compartments within cells that digest and recycle different types of molecules.
There are currently 23 known genes in the human CTS gene family. The genes in this family are designated by the letters CTS and an additional letter specific to that particular gene, for example CTSA and CTSL. The gene family includes multiple versions of CTSL; these genes are designated CTSL1, CTSL2, and CTSL3. Additionally, CTS genes that are similar to the CTSL genes have been named CTSLL (for CTSL-like) and are designated CTSLL1 through CTSLL7.
Cathepsins are involved in many different processes in cells and tissues. For example, they play roles in the self-destruction of cells (apoptosis), the formation of new blood vessels (angiogenesis), and cell growth and division (proliferation). Cathepsins are also involved in the normal functioning of the immune system and the breakdown and removal (resorption) of bone tissue that is no longer needed.
Changes in CTS genes have been associated with several complex diseases including rheumatoid arthritis, Alzheimer disease, and osteoporosis. Additionally, mutations in the CTSA gene cause a condition called galactosialidosis, which is characterized by skeletal malformations, an eye abnormality, and other health problems. Studies suggest that increased activity (expression) of cathepsins may also play a role in several types of cancer.
The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the CTS family (http://www.genenames.org/genefamily/cts.php).
Genetics Home Reference summarizes the normal function and health implications of these members of the CTS gene family: CTSA, CTSD, and CTSF.
Genetics Home Reference includes these conditions related to genes in the CTS gene family:
You may find the following resources about the CTS gene family helpful.
angiogenesis ; apoptosis ; arthritis ; cancer ; cell ; gene ; immune system ; osteoporosis ; proliferation ; protease ; serine ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
These sources were used to develop the Genetics Home Reference summary for the CTS gene family.
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.