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]

Full Name

arginine-glutamic acid dipeptide (RE) repeats

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.

Biological Process

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

Cellular Location

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

Involvement in disease

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.