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TRPS1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TRPS1 gene

The TRPS1 gene encodes a transcription factor that regulates the growth of bone and cartilage, and its dysfunction leads to specific developmental syndromes.

Normal Function

The TRPS1 gene provides instructions for making a protein that regulates the activity of many other genes. The TRPS1 protein is found within the cell nucleus where it interacts with specific regions of DNA to turn off (repress) gene activity. Based on this role, the TRPS1 protein is called a transcription factor. Research suggests that the TRPS1 protein plays a role in regulating genes that control the growth of bone and cartilage, a tough but flexible tissue that makes up much of the skeleton during early development.

Health Conditions Related to Genetic Changes

Trichorhinophalangeal syndrome type I

More than 130 mutations in the TRPS1 gene have been found to cause trichorhinophalangeal syndrome type I (TRPS I). TRPS I is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails. The mutations that cause this condition affect one copy of the TRPS1 gene in each cell.

Some of these mutations change single protein building blocks (amino acids) and have a "dominant-negative" effect, which means that the altered protein produced from one copy of the TRPS1 gene interferes with the function of the normal protein produced from the other copy of the gene. Other mutations add or delete small amounts of genetic material or alter the way the gene's instructions are used to make the protein. These changes have a "loss-of-function" effect and result in the production of a protein that cannot enter the cell nucleus where it is needed to bind to DNA and repress gene activity.

As a result of the protein's decreased ability to repress gene activity, particularly genes that regulate bone and cartilage growth, people with TRPS1 gene mutations develop abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms of TRPS I.

Trichorhinophalangeal syndrome type II

The TRPS1 gene is located in a region of chromosome 8 that is deleted in people with trichorhinophalangeal syndrome type II (TRPS II). TRPS II is a condition that causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat glands, and nails. As a result of this deletion, affected individuals are missing one copy of the TRPS1 gene in each cell and TRPS1 protein production is reduced by half. Researchers believe that this reduction in TRPS1 protein impairs the regulation of certain genes that control bone and cartilage growth, which contributes to short stature, abnormal bones in the fingers and toes, joint abnormalities, and distinctive facial features in people with TRPS II. The deletion of other genes near the TRPS1 gene likely contributes to the additional features of this condition.

Other Names for This Gene

  • GC79
  • LGCR
  • TRPS1_HUMAN
  • zinc finger transcription factor TRPS1

Frequently Asked Questions

Diagnosis is often suspected based on characteristic physical features. X-rays can identify skeletal abnormalities, particularly the cone-shaped epiphyses in the hands. Genetic testing to identify mutations in the TRPS1 gene is used to confirm the diagnosis.
Individuals with TRPS I often have distinctive facial features like a pear-shaped nose, long philtrum, and sparse hair. Other common issues include short stature, cone-shaped bone ends in the fingers and toes, joint problems, and abnormalities of the teeth, skin, and nails.
TRPS I is inherited in an autosomal dominant pattern. This means only one copy of the altered TRPS1 gene is needed to cause the condition. An affected individual has a 50% chance of passing the mutation to each child. Genetic counseling is recommended for affected individuals and their families.
Management is supportive and multidisciplinary, focusing on addressing specific symptoms. This may include orthopedic interventions for bone and joint problems, dental care for tooth abnormalities, and cosmetic procedures for hair or facial features. Regular monitoring for complications is also important.
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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