The RAI1 gene provides instructions for making a protein that is active in cells throughout the body, particularly nerve cells (neurons) in the brain. Located in the nucleus of the cell, the RAI1 protein helps control the activity (expression) of certain genes. Most of the genes regulated by RAI1 have not been identified.
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Evidence for genetic regulation of mRNA expression of the ...
Abstract. RAI1(retinoic acid induced-1) is a dosage-sensitive gene that causes Smith-Magenis syndrome (SMS) when mutated or deleted and Potocki-Lupski Syndrome (PTLS) when duplicated, with psychiatric features commonly observed in both syndromes. How common genetic variants regulate this gene, however, is unknown.
Regulation Help RAI1 / YGL246C Regulation Transcriptional regulation information for a gene, including any predicted DNA binding site motifs () for the gene's protein product, as well as any of its targets (genes it regulates) or regulators (genes that regulate it), based on experimental evidence.
We further link retinoic acid-induced 1 (RAI1), the Smith-Magenis syndrome gene, to the transcriptional program driven by reduced network activity. ... mediate early gene arc/arg3.1: regulation ...
Investigation into the role that RAI1 plays in the regulation of gene transcription and circadian maintenance revealed that RAI1 regulates the transcription of circadian locomotor output cycles kaput (CLOCK), a key component of the mammalian circadian oscillator that transcriptionally regulates many critical circadian genes.
The present work provides insights into RAI1-mediated regulation of gene transcription. RAI1 is a nucleosome-binding protein and is thought to act as a transcriptional coactivator ( Bi et al., 2005
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Copy number loss upstream of RAI1 uncovers gene expression ...
RAI1 is an essential neurodevelopmental gene that re-quires tightly controlled regulation of expression tem-porally and spatially [9], but the genetic landscape encompassing the regulation of RAI1 gene expression has largely been unexplored. Here, we characterized the role of a newly identified maternally inherited deletion
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RAI1 Gene - GeneCards | RAI1 Protein | RAI1 Antibody
RAI1 (Retinoic Acid Induced 1) is a Protein Coding gene. Diseases associated with RAI1 include Smith-Magenis Syndrome and Alacrima, Achalasia, And Mental Retardation Syndrome . Among its related pathways are Circadian rythm related genes and BMAL1-CLOCK,NPAS2 activates circadian gene expression .
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(PDF) RAI1 gene mutations: mechanisms of Smith–Magenis ...
SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by mutations in RAI1 itself.
