HomeGeneticsGeneCOL3A1 gene
Back to Gene
COL3A1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

COL3A1 gene

The COL3A1 gene provides instructions for making type III collagen, a protein that strengthens and supports tissues such as the skin, lungs, intestinal walls, and blood vessels.

Normal Function

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, resulting in the formation of very strong collagen fibers.

Health Conditions Related to Genetic Changes

Ehlers-Danlos syndrome

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. 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.

Other Names for This Gene

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

Frequently Asked Questions

Baseline imaging with MRI or CT angiography of the aorta, brain, and major vessels is usually done in adolescence. Follow-up scans are typically every 1–2 years, or sooner if symptoms develop or if the initial scan shows aneurysms or vessel wall abnormalities. Discuss a personalized schedule with your vascular surgeon.
Preconception counseling with a maternal-fetal medicine specialist is essential. During pregnancy, schedule regular ultrasounds to monitor fetal growth and maternal blood pressure. Consider a low-dose aspirin regimen starting in the first trimester to reduce preeclampsia risk. Avoid activities that increase abdominal pressure, and plan for a delivery method that minimizes strain on the uterus and blood vessels.===
Children with vascular EDS may show sudden, severe abdominal pain, chest pain, or back pain that could indicate intestinal or aortic rupture. They may also develop unexplained bruising, swelling, or a sudden drop in blood pressure. If any of these symptoms appear, seek emergency care immediately.
void high-impact sports, heavy lifting, and activities that involve sudden, forceful movements. Use protective gear, practice gentle stretching, and maintain a healthy weight to lessen strain on blood vessels. Encourage regular, low-intensity exercise like walking or swimming, and always warm up properly before any activity.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss