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RAB23 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RAB23 gene

The RAB23 gene provides instructions for making a protein essential for vesicle trafficking and the regulation of the hedgehog signaling pathway during embryonic development.

Normal Function

The RAB23 gene provides instructions for making a protein that is involved in a process called vesicle trafficking, which moves proteins and other molecules within cells in sac-like structures called vesicles. A vesicle forms when the cell membrane folds around a substance outside the cell (such as a protein). The vesicle is drawn into the cell, pinched off from the cell membrane (a process called endocytosis), and attached to the Rab23 protein. Once inside the cell, the vesicle is guided by the Rab23 protein to its proper destination. Vesicle trafficking is important for the transport of materials that are needed to trigger signaling during development.

Through the transport of certain proteins, the Rab23 protein regulates a specific developmental pathway called the hedgehog signaling pathway that is critical in cell growth (proliferation), cell specialization, and the normal shaping (patterning) of many parts of the body during embryonic development.

Health Conditions Related to Genetic Changes

Carpenter syndrome

More than a dozen mutations in the RAB23 gene have been found to cause Carpenter syndrome, a condition characterized by irregular skull formation, finger and toe abnormalities, and many other features.

  • One mutation frequently seen in individuals of northern European ancestry replaces the amino acid leucine with a premature stop signal at protein position 145 (Leu145Term or L145X). This results in an abnormally short, unstable protein that is quickly broken down.
  • Other RAB23 gene mutations that cause Carpenter syndrome reduce or eliminate the function of the Rab23 protein.
  • It is likely that impaired transport of proteins involved in the hedgehog signaling pathway contributes to the development of this disorder.

Other Names for This Gene

  • HSPC137
  • RAB family small GTP binding protein RAB 23
  • RAB23_HUMAN
  • ras-related protein Rab-23

Frequently Asked Questions

Carpenter syndrome is inherited in an autosomal recessive pattern, which means both parents must carry one copy of the mutated RAB23 gene for a child to be affected. Parents who are carriers typically do not show symptoms but have a 25 percent chance with each pregnancy of having a child with the condition, a 50 percent chance of having a carrier child, and a 25 percent chance of having a child with two normal gene copies. Genetic counseling is recommended for families with a history of the syndrome to discuss testing and reproductive options. Are there specific dietary or lifestyle changes that can help manage the symptoms associated with RAB23-related Carpenter syndrome?::There is no specific diet or lifestyle change that can reverse the genetic cause of Carpenter syndrome, but management focuses on addressing individual symptoms. For individuals with obesity, which is common in this condition, a balanced diet and regular physical activity are crucial to maintain a healthy weight and reduce strain on joints. Additionally, monitoring for and managing associated health issues such as sleep apnea, hearing loss, or vision problems through regular medical check-ups is essential for long-term quality of life. What are the early warning signs of RAB23-related conditions in infants, and how is the diagnosis typically confirmed?::Early signs of Carpenter syndrome may include a small head size (microcephaly), a characteristic head shape due to premature fusion of skull bones (craniosynostosis), and short, broad fingers and toes (brachydactyly). Diagnosis is often suspected based on physical examination and imaging studies like X-rays or CT scans. Definitive diagnosis is confirmed through genetic testing that identifies specific mutations in the RAB23 gene, which helps distinguish it from other similar craniosynostosis syndromes.
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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