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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed November 2015

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 type III collagen. Collagens are a family of proteins that strengthen and support many tissues in the body. Type III collagen is found in the skin, lungs, intestinal walls, and the walls of blood vessels.

The components of type III collagen, called pro-α1(III) chains, are produced from the COL3A1 gene. Each molecule of type III procollagen is made up of three copies of this chain.

The triple-stranded, rope-like procollagen molecules are processed by enzymes outside the cell to create mature type III collagen. The collagen molecules then arrange themselves into long, thin fibrils that form stable interactions (cross-links) with one another and with other types of collagen in the spaces between cells. The cross-links result in the formation of very strong collagen fibers.

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? ( 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 500 mutations in the COL3A1 gene have been found to cause a form of Ehlers-Danlos syndrome called the vascular type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. The vascular type can cause potentially life-threatening complications, including tearing (rupture) of blood vessels, intestines, and other organs. The mutations that cause this form of the disorder 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 vessel walls, and internal organs. An insufficient amount of type III collagen weakens connective tissues in these parts of the body, causing the signs and symptoms of the vascular type of Ehlers-Danlos syndrome.

Where is the COL3A1 gene located?

Cytogenetic Location: 2q31

Molecular Location on chromosome 2: base pairs 188,974,373 to 189,012,746

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

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 188,974,373 to base pair 189,012,746 on chromosome 2.

See How do geneticists indicate the location of a gene? ( 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
  • collagen, fetal
  • collagen III, alpha-1 polypeptide
  • collagen, type III, alpha 1
  • collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
  • EDS4A

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding COL3A1?

autosomal ; autosomal dominant ; cell ; collagen ; gene ; molecule ; Pro ; rupture ; syndrome ; vascular

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • 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. (
  • Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007 Jul 19;2:32. Review. (
  • 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. (
  • NCBI Gene (
  • 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. (
  • 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. (


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.

Reviewed: November 2015
Published: February 1, 2016