RERE
Domain
The interaction with ATN1 is mediated by the coiled coil domain.
Function
Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death.
Involvement in disease
A chromosomal aberration involving RERE is found in the neuroblastoma cell line NGP. Translocation t(1;15)(p36.2;q24).
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
NEDBEH
An autosomal dominant syndrome characterized by developmental delay, intellectual disability, brain anomalies, and neurological abnormalities including seizures, hypotonia, and behavioral problems such as autism spectrum disorders. Brain anomalies include abnormalities and/or thinning of the corpus callosum, diminished white matter volume, abnormal cerebellar vermis, and ventriculomegaly. Congenital defects of the eye, heart and genitourinary system are present in half of the patients.
None
The disease may be caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed. Expressed in tumor cell lines.
Cellular localization
- Nucleus
- Localized in nuclear bodies of variables size. Colocalized with PML and BAX in nuclear PODs.
Alternative names
ARG, ARP, ATN1L, KIAA0458, RERE, Arginine-glutamic acid dipeptide repeats protein, Atrophin-1-like protein, Atrophin-1-related protein