Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

CTSF

Reviewed September 2013

What is the official name of the CTSF gene?

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.

What is the normal function of the CTSF gene?

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).

Does the CTSF gene share characteristics with other genes?

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.

How are changes in the CTSF gene related to health conditions?

Kufs disease - caused by mutations in the CTSF gene

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.

Where is the CTSF gene located?

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.

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.

Where can I find additional information about CTSF?

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.

What other names do people use for the CTSF gene or gene products?

  • CATF_HUMAN
  • CATSF
  • CLN13

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CTSF?

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://www.ghr.nlm.nih.gov/glossary).

References

  • Nägler DK, Sulea T, Ménard R. Full-length cDNA of human cathepsin F predicts the presence of a cystatin domain at the N-terminus of the cysteine protease zymogen. Biochem Biophys Res Commun. 1999 Apr 13;257(2):313-8. (http://www.ncbi.nlm.nih.gov/pubmed/10198209?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8722)
  • OMIM: CATHEPSIN F (http://omim.org/entry/603539)
  • Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7. (http://www.ncbi.nlm.nih.gov/pubmed/23297359?dopt=Abstract)
  • Wex T, Wex H, Brömme D. The human cathepsin F gene--a fusion product between an ancestral cathepsin and cystatin gene. Biol Chem. 1999 Dec;380(12):1439-42. (http://www.ncbi.nlm.nih.gov/pubmed/10661872?dopt=Abstract)

 

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.

 
Reviewed: September 2013
Published: August 25, 2014