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Genetics Home Reference: your guide to understanding genetic conditions
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COL3A1

Reviewed May 2006

What is the official name of the COL3A1 gene?

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.

What is the normal function of the COL3A1 gene?

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.

Does the COL3A1 gene share characteristics with other genes?

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.

How are changes in the COL3A1 gene related to health conditions?

Ehlers-Danlos syndrome - caused by mutations in the COL3A1 gene

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.

Where is the COL3A1 gene located?

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.

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.

Where can I find additional information about COL3A1?

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.

What other names do people use for the COL3A1 gene or gene products?

  • alpha 1 type III collagen
  • CO3A1_HUMAN
  • collagen, fetal
  • Collagen III, alpha-1 polypeptide
  • collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
  • EDS4A

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding COL3A1?

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.

References

  • Beridze N, Frishman WH. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiol Rev. 2012 Jan-Feb;20(1):4-7. doi: 10.1097/CRD.0b013e3182342316. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22143279?dopt=Abstract)
  • Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007 Jul 19;2:32. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17640391?dopt=Abstract)
  • Giunta C, Steinmann B. Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. Hum Mutat. 2000 Aug;16(2):176-7. (http://www.ncbi.nlm.nih.gov/pubmed/10923041?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1281)
  • Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, Kalra M, Sullivan T, Gloviczki P. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg. 2005 Jul;42(1):98-106. (http://www.ncbi.nlm.nih.gov/pubmed/16012458?dopt=Abstract)
  • Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Am J Hum Genet. 2001 Nov;69(5):989-1001. Epub 2001 Sep 27. (http://www.ncbi.nlm.nih.gov/pubmed/11577371?dopt=Abstract)

 

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.

 
Reviewed: May 2006
Published: September 1, 2015