Anti-RERE antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

RERE also known as arginine-glutamic acid dipeptide repeats protein functions as a nuclear protein involved in transcription regulation. It has a molecular mass of approximately 170 kDa. Scientists find RERE expression in many tissues with heightened levels in the brain particularly in regions engaged in cognitive functions. This protein modulates gene expression by interacting with other transcriptional co-regulators influencing critical developmental processes.

Biological function summary

RERE impacts embryonic development and neurogenesis. It acts as part of a complex which includes proteins like ATN1 contributing to histone modification and chromatin remodeling. RERE influences cell fate by regulating the transcription of target genes necessary for proper neural development. By modulating gene expression RERE plays a significant role in the development of several organs notably the brain and heart.

Pathways

Various genetic and signal transduction cascades involve RERE. It participates in the retinoic acid signaling pathway where it interacts with retinoic acid receptors influencing gene transcription essential for embryonic development. Additionally the protein participates in the Wnt signaling pathway associated with cellular proliferation and differentiation interacting with proteins such as β-catenin to ensure proper signaling outcomes.

Associated diseases and disorders

RERE mutations associate with developmental disorders particularly neurodevelopmental disorders like intellectual disability. Moreover disruptions in RERE function link to certain congenital heart defects. Deficiency or malfunction in RERE may also impact proteins like SHH (Sonic Hedgehog) implicated in developmental pathways highlighting its potential involvement in signaling defects associated with these conditions.