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

RERE gene

The RERE gene provides instructions for a protein that regulates gene activity during early development, ensuring proper formation of the brain, heart, and other organs.

Normal Function

The RERE gene provides instructions for making a protein critical for normal development before birth. This protein interacts with transcription factors, which control the activity (transcription) of other genes. By helping these factors turn genes on or off at the right time and place, the RERE protein ensures proper tissue formation. Research indicates it plays a key role in the development of the brain, eyes, inner ear, heart, and kidneys.

Health Conditions Related to Genetic Changes

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

More than 15 mutations in the RERE gene have been found to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). This condition primarily affects brain development, leading to intellectual disability, delayed development, or autism spectrum disorder. Abnormalities of the eyes, heart, inner ear, or kidneys can also occur.

Mutations causing NEDBEH typically change single DNA building blocks (nucleotides) or add/remove them, which researchers suspect reduces or eliminates the function of the RERE protein. A shortage of this protein alters the activity of many genes involved in prenatal development, preventing the normal formation of various organs. The severity of the condition may depend on the location and type of mutation, though other unidentified genetic factors may also influence which body systems are affected.

Anophthalmia/Microphthalmia

MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia.

Other Names for This Gene

  • ARG
  • arginine-glutamic acid dipeptide (RE) repeats
  • arginine-glutamic acid repeats-encoding gene
  • ARP
  • ATN1L
  • atrophin 2
  • atrophin-1 like protein
  • atrophin-1 related protein
  • atrophn-related protein
  • deleted in neuroblastoma-1
  • DNB1
  • KIAA0458

Frequently Asked Questions

comprehensive assessment should include neuroimaging (MRI) to evaluate brain structure, ophthalmologic examination for eye anomalies, cardiac evaluation (echocardiogram) for heart defects, and audiologic testing for hearing issues. Regular follow‑up with a multidisciplinary team is essential.
Early intervention programs that combine speech, occupational, and physical therapy can enhance language, motor, and daily living skills. Behavioral therapy and social skills training help address autism‑related challenges. Pharmacologic treatment may be considered for specific symptoms such as seizures or attention deficits, guided by a neurologist.
Clinicians should monitor for delayed speech, motor skills, and cognitive milestones. Children may also exhibit features of autism spectrum disorder, such as social communication challenges and repetitive behaviors. Early developmental screening can flag these concerns.
Detection typically involves targeted next‑generation sequencing panels for neurodevelopmental disorders or whole exome sequencing. The test uses a blood sample and can identify pathogenic variants. Results are usually available within 3–6 weeks, and genetic counseling is advised.
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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