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Reviewed February 2008
What is the official name of the CTNS gene?
The official name of this gene is “cystinosin, lysosomal cystine transporter.”
CTNS is the gene's official symbol. The CTNS 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 CTNS gene?
The CTNS gene provides instructions for making a protein called cystinosin. This protein is located in the membrane of lysosomes, which are compartments in the cell that digest and recycle materials. Proteins digested inside lysosomes are broken down into smaller building blocks, called amino acids. The amino acids are then moved out of lysosomes by transport proteins. Cystinosin is a transport protein that specifically moves the amino acid cystine out of the lysosome.
How are changes in the CTNS gene related to health conditions?
Where is the CTNS gene located?
Cytogenetic Location: 17p13
Molecular Location on chromosome 17: base pairs 3,539,761 to 3,566,396
The CTNS gene is located on the short (p) arm of chromosome 17 at position 13.
More precisely, the CTNS gene is located from base pair 3,539,761 to base pair 3,566,396 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CTNS?
You and your healthcare professional may find the following resources about CTNS 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 CTNS 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 CTNS?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.