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

COMP gene

The COMP gene provides instructions for a protein that maintains the structural integrity of cartilage, ligaments, and tendons.

Overview

The COMP gene provides instructions for making the COMP protein. This protein is located in the extracellular matrix—the lattice of molecules surrounding cells—specifically near ligaments, tendons, and cartilage-forming cells called chondrocytes. Chondrocytes are vital for osteogenesis, the process where cartilage is converted into bone in the spine, hips, and limbs. While its exact function is not fully known, the COMP protein is believed to regulate cell growth, division, movement, and attachment, and it binds strongly to calcium.

Health Conditions Related to Genetic Changes

Multiple epiphyseal dysplasia

Mutations in the COMP gene are the most common cause of dominant multiple epiphyseal dysplasia. These mutations lead to the improper folding of the COMP protein within the endoplasmic reticulum. The resulting buildup causes the endoplasmic reticulum to enlarge, eventually leading to the death of chondrocytes. This premature cell death results in diminished long bone growth, short stature, and the formation of abnormal cartilage that is prone to early-onset osteoarthritis.

Pseudoachondroplasia

Approximately 60 mutations in the COMP gene have been identified in individuals with pseudoachondroplasia. Similar to multiple epiphyseal dysplasia, these mutations cause a buildup of abnormal COMP protein in the endoplasmic reticulum, leading to chondrocyte death. One specific mutation, 469delD (or D469del), is found in about 30 percent of affected individuals. It remains unclear why different mutations in the same gene result in either pseudoachondroplasia or multiple epiphyseal dysplasia.

Genomic Location

The COMP gene is found on chromosome 19.

Frequently Asked Questions

Early signs include short stature, joint pain or stiffness, especially in the knees and hips, and a waddling gait. In MED, the growth plates may show irregular widening on X‑ray, while pseudoachondroplasia often presents with a more pronounced short trunk and delayed bone age. How is a COMP mutation confirmed in a patient with suspected MED or pseudoachondroplasia?::A genetic test such as a targeted COMP gene panel or whole exome sequencing is performed. Identified variants are compared to databases of known pathogenic mutations. In pseudoachondroplasia, the D469del mutation is common and can be specifically screened for. What treatment options are available to manage joint pain and prevent early osteoarthritis in MED or pseudoachondroplasia?::Management is largely supportive: physical therapy to strengthen surrounding muscles, low‑impact aerobic exercise, weight control, and pain control with NSAIDs or acetaminophen. In severe cases, joint replacement surgery may be considered once the patient reaches skeletal maturity. Can children with a COMP mutation undergo normal pregnancy, and are there risks for their offspring?::Children with MED or pseudoachondroplasia can usually have normal pregnancies. However, since the conditions are inherited in an autosomal dominant manner, there is a 50% chance of passing the mutation to each child. Genetic counseling and prenatal testing can help families plan.
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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