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COL5A1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

COL5A1 gene

The COL5A1 gene provides instructions for making a component of type V collagen, which is essential for strengthening and supporting tissues such as skin, ligaments, bones, and tendons.

Normal Function

The COL5A1 gene provides instructions for making a component of type V collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including skin, ligaments, bones, tendons, and muscles.

A component of type V collagen called the pro-α1(V) chain is produced from the COL5A1 gene. Collagens begin as rope-like procollagen molecules that are each made up of three chains. Two combinations of chains can produce type V collagen: three pro-α1(V) chains or two pro-α1(V) chains and one pro-α2(V) chain (which is produced from the COL5A2 gene).

The triple-stranded procollagen molecules are processed by enzymes outside the cell to create mature collagen. The collagen molecules then arrange themselves into long, thin fibrils with another form of collagen, type I. Type V collagen regulates the width (diameter) of those fibrils and controls the assembly of other types of collagen into fibrils in several tissues.

Health Conditions Related to Genetic Changes

Ehlers-Danlos syndrome

Mutations in the COL5A1 gene cause a form of Ehlers-Danlos syndrome called the classical type. This group of disorders affects the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. This form is characterized by:

  • Skin that is soft, highly stretchy (elastic), and fragile
  • Abnormal scarring
  • An unusually large range of joint movement (hypermobility)

More than 100 COL5A1 gene mutations have been identified in people with classical Ehlers-Danlos syndrome. These mutations affect one copy of the gene in each cell, reducing the amount of pro-α1(V) chains produced. As a result, fibrils containing type V and type I collagens in the skin and other tissues are disorganized and larger than usual, weakening connective tissues throughout the body.

Carpal tunnel syndrome

MedlinePlus Genetics provides information about Carpal tunnel syndrome.

Keratoconus

MedlinePlus Genetics provides information about Keratoconus.

Other Names for This Gene

  • alpha 1 type V collagen preproprotein
  • CO5A1_HUMAN
  • collagen type V alpha 1
  • collagen, type V, alpha 1

Frequently Asked Questions

high Beighton score (≥5/9) combined with frequent joint dislocations, chronic joint pain, and a family history of stretchy skin or easy bruising raises suspicion. Genetic testing for COL5A1 mutations confirms the diagnosis.
Engage in low‑impact aerobic exercises (swimming, cycling), focus on strengthening the muscles around hypermobile joints, incorporate proprioceptive training, and use supportive braces or taping during high‑risk activities. Avoid high‑impact sports that increase the risk of dislocation or ligament sprain.
Look for skin that stretches >2.5 cm, poor wound healing, atrophic or “cigarette‑paper” scars, and a positive “pinch test” where the skin remains indented after 10 seconds. A skin biopsy showing abnormal type V collagen fibrils can provide additional confirmation.
No medication can fully correct collagen defects, but vitamin C and copper supplements support collagen synthesis, and topical silicone sheets or pressure garments can improve scar appearance. Pain can be managed with NSAIDs or neuropathic pain agents, and physical therapy can help maintain joint function.===
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.

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