RERE : arginine-glutamic acid dipeptide repeats
Description
The RERE (arginine-glutamic acid dipeptide repeats) is a protein-coding gene located on chromosome 1.
The RERE gene provides instructions for making a protein crucial for normal development before birth. This protein interacts with transcription factors, which regulate gene activity, helping them activate and deactivate genes essential for early development. This ensures proper tissue formation by activating genes at the right time and place. Research suggests the RERE protein contributes to the development of the brain, eyes, inner ear, heart, and kidneys.
RERE protein acts as a transcriptional repressor during development. It might also contribute to the regulation of cell survival. When RERE is overexpressed, it attracts BAX to the nucleus, specifically to the POD region, and activates caspase-3, ultimately causing cell death.
RERE is also known as ARG, ARP, ATN1L, DNB1, NEDBEH.
Associated Diseases
- RERE-related neurodevelopmental syndrome
- 1p36 deletion syndrome
- Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart