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CTNS

CTNS

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?

cystinosis - caused by mutations in the CTNS gene

More than 80 different mutations that are responsible for causing cystinosis have been identified in the CTNS gene. The most common mutation is a deletion of a large part of the CTNS gene (sometimes referred to as the 57-kb deletion), resulting in the complete loss of cystinosin. This deletion is responsible for approximately 50 percent of cystinosis cases in people of European descent. Other mutations result in the production of an abnormally short protein that cannot carry out its normal transport function. Mutations that change very small regions of the CTNS gene may allow the transporter protein to retain some of its usual activity, resulting in a milder form of cystinosis.

Where is the CTNS gene located?

Cytogenetic Location: 17p13

Molecular Location on chromosome 17: base pairs 3,636,467 to 3,663,102

The CTNS gene is located on the short (p) arm of chromosome 17 at position 13.

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 3,636,467 to base pair 3,663,102 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?

  • CTNS_HUMAN
  • CTNS-LSB
  • Cystinosis
  • PQLC4

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?

acids ; amino acid ; cell ; cystine ; deletion ; gene ; kb ; lysosome ; mutation ; protein

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.

 
Reviewed: February 2008
Published: December 16, 2014