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COL11A1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

COL11A1 gene

The COL11A1 gene provides instructions for creating a component of type XI collagen, a protein essential for the structure and strength of connective tissues.

Overview

The COL11A1 gene provides instructions for making the pro-alpha1(XI) chain, a component of type XI collagen. Collagens are molecules that provide structure and strength to connective tissues, including cartilage, joints, skin, and organs.

Normal Function

Type XI collagen is primarily found in cartilage, the inner ear, the vitreous (clear gel in the eye), and the nucleus pulposus of the spine. The pro-alpha1(XI) chain combines with other collagen chains to form a triple-stranded procollagen molecule, which is later processed into mature collagen. These molecules arrange themselves into fibrils that form stable cross-links, creating strong fibers. Additionally, type XI collagen helps maintain the spacing and diameter of type II collagen, which is essential for the normal structure of cartilage and the vitreous.

Health Conditions Related to Genetic Changes

Fibrochondrogenesis

This is a severe bone growth disorder characterized by skeletal abnormalities, hearing loss, and vision loss. It is often caused by combinations of COL11A1 variants that either produce an abnormal pro-alpha1(XI) chain or eliminate its production entirely, leading to defective type XI collagen.

Stickler syndrome

Variants in COL11A1 account for 10 to 20 percent of Stickler syndrome cases. These variants impair the production or assembly of type XI collagen, leading to symptoms such as:

  • Distinctive facial appearance
  • Eye abnormalities
  • Hearing loss
  • Joint problems

Other disorders

Variants in the COL11A1 gene are also associated with Marshall syndrome, which shares features with Stickler syndrome, as well as carpal tunnel syndrome, intervertebral disc disease, nonsyndromic hearing loss, and osteoarthritis.

Other Names for This Gene

  • COLL6
  • collagen type XI alpha 1
  • collagen XI, alpha-1 polypeptide
  • collagen, type XI, alpha 1
  • STL2

Frequently Asked Questions

Testing is usually done with a blood sample (or saliva) that is sent for next‑generation sequencing of a connective‑tissue gene panel, which includes COL11A1. The lab looks for single‑nucleotide variants, small deletions/insertions, and sometimes larger copy‑number changes. Results typically return in 2–4 weeks. If a pathogenic variant is found, a genetic counselor can explain inheritance (often autosomal dominant) and discuss testing for at‑risk relatives.
People with COL11A1‑related Stickler syndrome often develop myopia, retinal detachment, cataracts, and vitreous abnormalities. Annual comprehensive eye exams are recommended, with more frequent visits (every 6 months) if you have high myopia or a history of retinal tears. Prompt reporting of new flashes of light, sudden floaters, or loss of peripheral vision is critical because retinal detachment requires urgent surgical repair.
There is no therapy that directly restores type XI collagen, but symptom management focuses on preserving joint function. Low‑impact aerobic exercise (e.g., swimming, cycling), physical therapy to strengthen peri‑articular muscles, and weight management reduce joint stress. NSAIDs or acetaminophen can control pain; intra‑articular hyaluronic acid injections may provide temporary relief. In advanced cases, orthopedic referral for joint‑preserving procedures (e.g., osteotomy) or joint replacement is considered. Vitamin D and calcium supplementation support bone health, but they do not correct the collagen defect.
Fibrochondrogenesis leads to severe skeletal dysplasia, early‑onset hearing loss, and vision problems due to abnormal cartilage and vitreous development. Key monitoring includes regular orthopedic assessments for joint contractures or spinal curvature, audiology exams to track hearing loss (hearing aids or cochlear implants may be needed), and ophthalmology visits for retinal or vitreous abnormalities. Nutritional support and physical therapy are important to maintain mobility, and a multidisciplinary team (orthopedist, ENT, ophthalmologist, geneticist) should coordinate care.
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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