RERE

This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

arginine-glutamic acid dipeptide (RE) repeats

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.

Biological Process branching morphogenesis of a nerveIEA:Ensembl
Biological Process cerebellar granule cell precursor proliferationIEA:Ensembl
Biological Process cerebellar Purkinje cell layer maturationIEA:Ensembl
Biological Process chromatin remodelingIEA:Ensembl
Biological Process dendrite morphogenesisIEA:Ensembl
Biological Process radial glia guided migration of Purkinje cellIEA:Ensembl

Nucleus
Localized in nuclear bodies of variables size. Colocalized with PML and BAX in nuclear PODs.

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.