HomeGeneticsGeneCOL5A2 gene
Back to Gene
COL5A2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

COL5A2 gene

The COL5A2 gene provides instructions for creating the pro-α2(V) chain, a component of type V collagen that helps regulate the structure and assembly of connective tissue fibrils.

Normal Function

The COL5A2 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-α2(V) chain is produced from the COL5A2 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 (produced from the COL5A1 gene) or two pro-α1(V) chains and one pro-α2(V) chain.

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 COL5A2 gene have been identified in a small number of people with 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)

About 20 COL5A2 gene mutations have been identified in people with classical Ehlers-Danlos syndrome. These mutations affect one copy of the gene in each cell and change the structure of the pro-α2(V) chain. As a result, fibrils containing type V and type I collagens are disorganized and larger than usual, weakening connective tissues throughout the body.

Other Names for This Gene

  • AB collagen
  • CO5A2_HUMAN
  • collagen type V alpha 2
  • collagen V, alpha-2 polypeptide
  • collagen, fetal membrane, A polypeptide
  • collagen, type V, alpha 2

Frequently Asked Questions

Gentle, low‑impact activities such as swimming, yoga, or tai chi are recommended. Avoid high‑impact sports, use supportive footwear, and consider joint‑stabilizing braces or physical‑therapy‑guided strengthening to protect ligaments while maintaining mobility.
definitive diagnosis usually requires a combination of clinical criteria (skin hyperextensibility, joint hypermobility, abnormal scarring) and molecular testing. Whole‑exome sequencing or targeted COL5A2 sequencing can identify pathogenic variants, and a positive result confirms the diagnosis.
Women with classical Ehlers‑Danlos may have increased risk of uterine or placental complications, such as preterm labor or abnormal bleeding. Prenatal care should include close monitoring of blood pressure, careful assessment of the cervix, and early counseling about potential delivery options (e.g., planned cesarean if indicated). A multidisciplinary team involving obstetricians, geneticists, and anesthesiologists can help manage these risks.
Parents often notice that a child's skin feels unusually soft, stretches more than normal, and may bruise or tear easily. If the skin also appears thin or has a translucent look, a clinician may order a skin biopsy or genetic testing for COL5A2 mutations.
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