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Reviewed October 2012
What is the official name of the ACAN gene?
The official name of this gene is “aggrecan.”
ACAN is the gene's official symbol. The ACAN 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 ACAN gene?
The ACAN gene provides instructions for making the aggrecan protein. Aggrecan is a type of protein known as a proteoglycan, which means it has several sugar molecules attached to it. It is the most abundant proteoglycan in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways, and external ears.
Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. These interactions occur at a specific region of the aggrecan protein called the C-type lectin domain (CLD). Because of the attached sugars, aggrecan attracts water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints. Although its role is unclear, aggrecan affects bone development.
Does the ACAN gene share characteristics with other genes?
The ACAN gene belongs to a family of genes called proteoglycans (proteoglycans).
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? in the Handbook.
How are changes in the ACAN gene related to health conditions?
Where is the ACAN gene located?
Cytogenetic Location: 15q26.1
Molecular Location on chromosome 15: base pairs 88,803,441 to 88,875,353
The ACAN gene is located on the long (q) arm of chromosome 15 at position 26.1.
More precisely, the ACAN gene is located from base pair 88,803,441 to base pair 88,875,353 on chromosome 15.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ACAN?
You and your healthcare professional may find the following resources about ACAN 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 ACAN 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 ACAN?
amino acid ; asparagine ; aspartic acid ; cartilage ; compression ; DNA ; domain ; dysplasia ; familial ; gene ; joint ; methionine ; mutation ; ossification ; protein ; proteoglycan ; short stature ; stature ; sulfate ; tissue ; valine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.