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TRIP11 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TRIP11 gene

The TRIP11 gene provides instructions for making a protein essential for Golgi apparatus function and skeletal development.

Normal Function

The TRIP11 gene provides instructions for making a protein known as thyroid receptor-interacting protein 11 (TRIP-11). This protein is found in the Golgi apparatus, a cell structure where newly produced proteins are modified to carry out their functions. Studies suggest that TRIP-11 helps maintain the structure of the Golgi apparatus and may be involved in the transport of certain proteins out of cells.

Although TRIP-11 is found throughout the body, researchers suspect it plays a particularly important role in cells called chondrocytes in the developing skeleton. Chondrocytes give rise to cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.

Health Conditions Related to Genetic Changes

Achondrogenesis

Several variants (mutations) in the TRIP11 gene have been found to cause a form of achondrogenesis known as type 1A or the Houston-Harris type. This rare disorder of bone development is characterized by:

  • Extremely short limbs
  • A narrow chest
  • Short ribs that fracture easily
  • A lack of normal bone formation (ossification) in the skull, spine, and pelvis

Serious health problems result from these abnormalities, and infants with achondrogenesis usually die before or soon after birth. The TRIP11 gene variants associated with this condition often lead to the production of a nonfunctional version of TRIP-11 or prevent the cell from producing any of this protein. A shortage of TRIP-11 activity alters the structure and function of the Golgi apparatus, which impairs protein modification. Chondrocytes appear to be particularly sensitive to these changes, and malfunction of the Golgi apparatus in these cells likely underlies the problems with bone formation.

Other Names for This Gene

  • ACG1A
  • CEV14
  • GMAP210
  • ODCD
  • TRIP230

Frequently Asked Questions

chondrogenesis type 1A is a severe and typically lethal disorder. Due to the profound skeletal abnormalities and underdeveloped lungs, infants usually die before or shortly after birth from respiratory failure. Care focuses on providing comfort and support to the infant and family, often involving palliative care services.
chondrogenesis type 1A caused by TRIP11 mutations is inherited in an autosomal recessive pattern. This means that both parents must be carriers of a mutated TRIP11 gene (each having one normal and one mutated copy) for their child to be affected. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have achondrogenesis type 1A. Genetic counseling is recommended for parents to understand their carrier status and discuss recurrence risks for future pregnancies.
Yes, achondrogenesis type 1A can often be detected during prenatal ultrasound examinations. Characteristic findings may include extremely short limbs, a narrow chest, short ribs, and poor ossification (bone formation) of the skull, spine, and pelvis. Genetic testing of amniotic fluid or chorionic villus samples can confirm the diagnosis by identifying TRIP11 gene 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.

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