arginine-glutamic acid dipeptide repeats
The RERE gene provides instructions for making a protein that is critical for normal development before birth. This protein interacts with other proteins called transcription factors, which control the activity (transcription) of particular genes. The RERE protein helps these transcription factors turn on (activate) and turn off (repress) a number of genes important for early development, ensuring that the genes are activated (expressed) at the right time and place for proper tissue formation. Research indicates that the RERE protein plays a role in the development of the brain, eyes, inner ear, heart, and kidneys.
More than 15 mutations in the RERE gene have been found to cause a condition called neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). This condition primarily affects brain development, causing intellectual disability, delayed development, or autism spectrum disorder, which is a condition that affects communication and social interaction. Abnormalities of other body systems, including the eyes, heart, inner ear, or kidneys, can also occur.
Many of the RERE gene mutations that cause NEDBEH change single DNA building blocks (nucleotides). Other mutations add or remove nucleotides. Researchers suspect that these genetic changes reduce or eliminate the function of the RERE protein. A shortage of RERE protein function likely alters the activity of many genes involved in development before birth. These changes prevent the normal development of tissues in the brain, eyes, heart, and other organs. Researchers are working to identify which genes are affected and how changes in their activity lead to the signs and symptoms of NEDBEH.
It is unknown why some people with NEDBEH have only neurological problems and others also have structural abnormalities. Researchers suspect that the severity of the condition may be related to the location and type of mutation in the RERE gene. Additional genetic factors that have not been identified, including variations in other genes, may also help determine which body systems are affected.
- arginine-glutamic acid dipeptide (RE) repeats
- arginine-glutamic acid repeats-encoding gene
- atrophin-1 like protein
- atrophin-1 related protein
- atrophin 2
- atrophn-related protein
- deleted in neuroblastoma-1