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CHST3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CHST3 gene

The CHST3 gene provides instructions for an enzyme essential to cartilage development and the maintenance of a healthy skeleton.

Normal Function

The CHST3 gene provides instructions for making an enzyme called chondroitin 6-O-sulfotransferase 1 (C6ST-1). This enzyme plays a vital role in the development and maintenance of the skeleton, particularly cartilage—the tough, flexible tissue that forms much of the skeleton during early development.

C6ST-1 modifies molecules called chondroitin sulfate proteoglycans, which give cartilage its rubbery, gel-like consistency. The enzyme performs a process called sulfation, where it transfers a sulfate chemical group from a molecule called PAPS to chondroitin sulfate proteoglycans. This sulfation process is a critical step in proper cartilage formation.

Health Conditions Related to Genetic Changes

CHST3-related skeletal dysplasia

At least 24 mutations in the CHST3 gene cause CHST3-related skeletal dysplasia, a condition characterized by progressive bone and joint abnormalities.

  • Genetic impact: Most mutations change single amino acids in the C6ST-1 enzyme, while others result in an abnormally short, non-functional version of the enzyme.
  • Consequences: These changes reduce or eliminate the activity of C6ST-1, preventing the necessary sulfation of chondroitin sulfate proteoglycans.
  • Clinical features: Defective sulfation disrupts cartilage and bone development, leading to symptoms such as short stature and joint dislocations.

Other Names for This Gene

  • C6ST
  • C6ST-1
  • C6ST1
  • carbohydrate (chondroitin 6) sulfotransferase 3
  • chondroitin 6-O-sulfotransferase 1
  • CHST3_HUMAN
  • galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0
  • GST-0
  • HSD

Frequently Asked Questions

Diagnosis usually involves a combination of clinical examination, detailed skeletal X-rays to identify characteristic bone and joint abnormalities, and genetic testing to confirm the presence of mutations in the CHST3 gene.
Management focuses on alleviating symptoms and improving joint function. This often includes orthopedic surgeries to correct joint dislocations or deformities, physical and occupational therapy to maintain mobility and strength, and pain management strategies. Regular monitoring for spinal issues and other skeletal complications is also important.
Common signs include short stature, joint dislocations (especially in the hips, knees, and elbows), joint pain, and limited range of motion in the joints. Progressive bone abnormalities, such as scoliosis (curvature of the spine) or deformities of the long bones, may also develop.
Individuals with CHST3-related skeletal dysplasia typically face progressive joint degeneration, chronic pain, and a need for multiple orthopedic interventions throughout their lives. While they may experience reduced mobility and require adaptive support, intelligence is generally unaffected, and with appropriate medical management, they can lead fulfilling lives.
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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