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Reviewed October 2012
What is the official name of the EXT2 gene?
The official name of this gene is “exostosin glycosyltransferase 2.”
EXT2 is the gene's official symbol. The EXT2 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 EXT2 gene?
The EXT2 gene provides instructions for producing a protein called exostosin-2. This protein is found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, exostosin-2 attaches (binds) to another protein, exostosin-1, to form a complex that modifies a protein called heparan sulfate so it can be used in the body. Heparan sulfate is involved in regulating a variety of body processes including the formation of blood vessels (angiogenesis) and blood clotting. It also has a role in the spreading (metastasis) of cancer cells.
How are changes in the EXT2 gene related to health conditions?
Where is the EXT2 gene located?
Cytogenetic Location: 11p12-p11
Molecular Location on chromosome 11: base pairs 44,095,549 to 44,245,430
The EXT2 gene is located on the short (p) arm of chromosome 11 between positions 12 and 11.
More precisely, the EXT2 gene is located from base pair 44,095,549 to base pair 44,245,430 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EXT2?
You and your healthcare professional may find the following resources about EXT2 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 EXT2 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 EXT2?
angiogenesis ; benign ; blood clotting ; cancer ; cell ; chromosome ; clotting ; deletion ; developmental delay ; disability ; exostoses ; gene ; Golgi apparatus ; heparan sulfate ; hereditary ; metastasis ; mutation ; protein ; proteoglycan ; proximal ; sulfate ; syndrome
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.