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

EOGT gene

The EOGT gene provides instructions for a protein that modifies other proteins to regulate cellular signaling and development.

Normal Function

The EOGT gene provides instructions for making a protein that modifies other proteins by transferring a molecule called N-acetylglucosamine to them. This process, known as O-GlcNAc modification, can affect protein stability and regulate cellular processes such as signaling and transcription.

Studies suggest that Notch proteins may be modified by EOGT. Notch proteins stimulate signaling pathways that are vital during the development of various tissues, including bones, heart, liver, muscles, and blood cells.

Health Conditions Related to Genetic Changes

Adams-Oliver syndrome

At least three mutations in the EOGT gene have been identified in individuals with Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet.

The most common EOGT mutation, found in the Arab population, leads to an abnormally short protein. Other mutations change single amino acids in the EOGT protein. Research indicates that these mutations reduce or eliminate the protein's ability to transfer N-acetylglucosamine, though the exact mechanism by which this impairment leads to the features of Adams-Oliver syndrome remains unknown.

Other Names for This Gene

  • AER61
  • AER61 glycosyltransferase
  • AOS4
  • C3orf64
  • EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
  • EGF domain-specific O-linked N-acetylglucosamine transferase
  • EGF-O-GlcNAc transferase
  • EOGT1
  • EOGT_HUMAN
  • extracellular O-linked N-acetylglucosamine transferase
  • FLJ33770

Frequently Asked Questions

dams-Oliver syndrome can be inherited in different ways, but mutations in the EOGT gene typically cause an autosomal recessive form. This means a person must inherit two copies of the mutated EOGT gene (one from each parent) to develop the condition. If both parents are carriers (each having one normal and one mutated gene), there is a 25% chance with each pregnancy that their child will have Adams-Oliver syndrome, a 50% chance the child will be a carrier, and a 25% chance the child will not have the condition and not be a carrier.
dams-Oliver syndrome is primarily characterized by two main features: aplasia cutis congenita, which are areas of missing skin, usually on the scalp, and malformations of the hands and feet. These can range from underdeveloped fingers or toes to missing digits. Other features can include heart defects, developmental delays, or neurological issues, though these are less common. Diagnosis is often made based on these distinctive physical findings at birth or shortly after.
The EOGT gene provides instructions for a protein that modifies other proteins by adding a specific sugar molecule called N-acetylglucosamine. This modification is crucial for regulating how cells signal and develop, especially for proteins like Notch, which are vital for the proper formation of tissues like bones, heart, and skin. When there are mutations in the EOGT gene, the protein's ability to perform this modification is reduced or eliminated. This disruption in cellular signaling and development is thought to lead to the characteristic skin and limb malformations seen in Adams-Oliver syndrome, though the precise steps are still being researched.
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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