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UBE3A gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

UBE3A gene

The UBE3A gene provides instructions for making a protein critical for nervous system development and function, including the regulation of learning and memory.

Normal Function

The UBE3A gene provides instructions for making a protein called ubiquitin protein ligase E3A. Ubiquitin protein ligases are enzymes that target other proteins to be broken down (degraded) within cells. These enzymes attach a small molecule called ubiquitin to proteins that should be degraded. Cellular structures called proteasomes recognize and digest these ubiquitin-tagged proteins. Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells.

Studies suggest that ubiquitin protein ligase E3A plays a critical role in the normal development and function of the nervous system. Studies suggest that it helps control (regulate) the balance of protein synthesis and degradation (proteostasis) at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. Regulation of proteostasis is important for the synapses to change and adapt over time in response to experience, a characteristic called synaptic plasticity. Synaptic plasticity is critical for learning and memory.

People normally inherit two copies of the UBE3A gene, one from each parent. Both copies of the gene are turned on (active) in most of the body's tissues. However, in nerve cells (neurons) in the brain and spinal cord (the central nervous system), only the copy inherited from a person's mother (the maternal copy) is active. This parent-specific gene activation results from a phenomenon known as genomic imprinting.

Health Conditions Related to Genetic Changes

Angelman syndrome

A loss of UBE3A gene function in the brain likely causes many of the characteristic features of Angelman syndrome, a complex genetic disorder that primarily affects the nervous system. This loss of function results from a chromosomal change or gene variant (also known as a mutation) that affects the maternal copy of the gene.

  • Chromosomal Deletions: Most cases of Angelman syndrome (about 70 percent) occur when a segment of the maternal chromosome 15 containing this gene is deleted.
  • Gene Variants: In 10 to 20 percent of cases, variants within the UBE3A gene lead to the production of an abnormally short, nonfunctional version of the enzyme.
  • Mechanism: Because the paternal copy is normally inactive in most areas of the brain, loss of the maternal copy prevents any of the enzyme from being produced, leading to the signs and symptoms of the syndrome.
  • Other Abnormalities: Rearrangements (translocations) of genetic material or defects in the DNA region controlling gene activation can also prevent the production of functional enzyme.

Other disorders

Variants in the UBE3A gene have been found in a small number of individuals with a variety of neurological problems, including intellectual disability, seizures, and autism spectrum disorder. Unlike variants involved in Angelman syndrome, which reduce the function of the protein, these rare variants increase the function of the protein. It is not clear how excess ubiquitin protein ligase E3A activity affects development and contributes to the neurological features in these cases.

Other Names for This Gene

  • ANCR
  • CTCL tumor antigen se37-2
  • E6-AP
  • E6AP ubiquitin-protein ligase
  • EPVE6AP
  • HPVE6A
  • human papilloma virus E6-associated protein
  • oncogenic protein-associated protein E6-AP
  • UBE3A_HUMAN
  • ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)

Frequently Asked Questions

Individuals with Angelman syndrome typically exhibit severe developmental delays, intellectual disability, significant speech impairment (often no speech), movement or balance disorders (ataxia), and a characteristic happy, excitable demeanor with frequent laughter. Other features can include microcephaly, seizures, and sleep disturbances.
In most cells, both copies of the UBE3A gene (one from each parent) are active. However, in nerve cells of the brain and spinal cord, a unique process called genomic imprinting silences the copy inherited from the father, leaving only the maternal copy active. Therefore, if the maternal copy of UBE3A is missing or not working correctly, there's no functional gene product in the brain, leading to Angelman syndrome.
ngelman syndrome can arise from several types of UBE3A gene changes. While some cases are spontaneous (de novo mutations or deletions), others can be inherited. The inheritance pattern depends on the specific genetic change, such as a deletion of the maternal UBE3A region, a mutation within the UBE3A gene itself, or issues with genomic imprinting. Genetic counseling can help families understand the specific cause and recurrence risk.
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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