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The official name of this gene is “collagen, type III, alpha 1.”
COL3A1 is the gene's official symbol. The COL3A1 gene is also known by other names, listed below.
The COL3A1 gene provides instructions for making a component of collagen. Collagens form a family of proteins that strengthen and support many tissues in the body. Type III collagen is found in tissues such as the skin, lungs, intestinal walls, and the walls of blood vessels. The COL3A1 gene produces the components of type III collagen, called pro-alpha1(III) chains. Three copies of this chain combine to make a molecule of type III procollagen. These triple-stranded, rope-like procollagen molecules must be processed by enzymes outside the cell to remove extra protein segments from their ends. Once these molecules are processed, the collagen molecules arrange themselves into long, thin fibrils. Within these fibrils, the individual collagen molecules are cross-linked to one another. These cross-links result in the formation of very strong mature type III collagen fibrils, which are found in the spaces around cells.
The COL3A1 gene belongs to a family of genes called COL (collagens).
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.
More than 320 mutations that cause the vascular type of Ehlers-Danlos syndrome have been identified in the COL3A1 gene. Only a few of these mutations have been seen in more than one family. The mutations alter the structure and production of type III procollagen molecules. As a result, a large percentage of type III collagen molecules are assembled incorrectly, or the amount of type III collagen is greatly reduced. Researchers believe that these changes affect tissues that are normally rich in this type of collagen, such as the skin, blood vessels, and internal organs. Lack of sufficient type III collagen causes the signs and symptoms of vascular Ehlers-Danlos syndrome.
Cytogenetic Location: 2q31
Molecular Location on chromosome 2: base pairs 188,974,372 to 189,012,745
The COL3A1 gene is located on the long (q) arm of chromosome 2 at position 31.
More precisely, the COL3A1 gene is located from base pair 188,974,372 to base pair 189,012,745 on chromosome 2.
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 COL3A1 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.
autosomal ; autosomal dominant ; cell ; collagen ; gene ; molecule ; Pro ; protein ; syndrome ; vascular
You may find definitions for these and many other terms in the Genetics Home Reference 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.