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The official name of this gene is “cathepsin F.”
CTSF is the gene's official symbol. The CTSF gene is also known by other names, listed below.
The CTSF gene provides instructions for making an enzyme called cathepsin F. Cathepsin F is one of a family of cathepsin proteins that act as proteases, which modify proteins by cutting them apart. Cathepsin F is found in many types of cells and is active in lysosomes, which are compartments within cells that digest and recycle different types of molecules. By cutting proteins apart, cathepsin F can break proteins down, turn on (activate) proteins, and regulate self-destruction of the cell (apoptosis).
The CTSF gene belongs to a family of genes called CTS (cathepsins).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
At least five mutations in the CTSF gene have been found to cause Kufs disease type B. This condition is a type of neuronal ceroid lipofuscinosis (NCL) characterized by progressive problems with movement and a decline in intellectual function beginning in adulthood. Most of the CTSF gene mutations that cause Kufs disease type B change single protein building blocks (amino acids), resulting in a cathepsin F protein with reduced function. This decrease in cathepsin F function likely slows the normal breakdown of proteins and other materials. In the lysosomes of nerve cells (neurons) in the brain, these materials accumulate into fatty substances called lipopigments. These accumulations can result in cell dysfunction and eventually cause cell death. The progressive death of neurons contributes to the movement problems and intellectual decline characteristic of Kufs disease.
Cytogenetic Location: 11q13
Molecular Location on chromosome 11: base pairs 66,563,463 to 66,568,575
The CTSF gene is located on the long (q) arm of chromosome 11 at position 13.
More precisely, the CTSF gene is located from base pair 66,563,463 to base pair 66,568,575 on chromosome 11.
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 CTSF 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 ; apoptosis ; breakdown ; cell ; ceroid ; enzyme ; gene ; protein
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.