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The official name of this gene is “ADAM metallopeptidase with thrombospondin type 1 motif, 2.”
ADAMTS2 is the gene's official symbol. The ADAMTS2 gene is also known by other names, listed below.
The ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molecules. Procollagens are the precursors of collagens, which are complex molecules that add strength, support, and elasticity (the ability to stretch) to many body tissues. Specifically, the ADAMTS2 enzyme clips a short chain of protein building blocks (amino acids) off one end of procollagens. This clipping step is necessary for the resulting collagen molecules to assemble into strong, slender fibrils outside cells.
The ADAMTS2 gene belongs to a family of genes called ADAMTS (ADAMTS metallopeptidase with thrombospondin type 1 motif).
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.
Several mutations in the ADAMTS2 gene have been identified in people with a form of Ehlers-Danlos syndrome called the dermatosparaxis type. These mutations greatly reduce the production or activity of the enzyme made by the ADAMTS2 gene. Procollagens cannot be processed correctly without this enzyme. As a result, collagen fibrils are not assembled properly; they appear ribbon-like and disorganized under the microscope. Cross-links, or chemical interactions, between collagen fibrils are also disrupted. These defects weaken connective tissue (the tissue that binds and supports the body's muscles, ligaments, organs, and skin), which causes the signs and symptoms of the disorder.
Cytogenetic Location: 5qter
Molecular Location on chromosome 5: base pairs 179,110,850 to 179,345,429
The ADAMTS2 gene is located on the long (q) arm of chromosome 5 at the end (terminus) of the arm.
More precisely, the ADAMTS2 gene is located from base pair 179,110,850 to base pair 179,345,429 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ADAMTS2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; collagen ; connective tissue ; enzyme ; gene ; metalloprotease ; motif ; protein ; proteinase ; syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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.