# RAI1

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{{Short description|Mammalian protein found in Homo sapiens}}
{{about|the protein|the Italian television channel|Rai 1}}
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{{infobox gene}}

'''Retinoic acid-induced protein 1''' is a [transcription factor](/source/transcription_factor) that in humans is encoded by the '''RAI1''' [gene](/source/gene). Mutations or [copy number](/source/copy_number) alterations affecting this gene are associated with [neurodevelopmental](/source/neurodevelopmental) disorders. Deletions of RAI1 are a primary cause of [Smith–Magenis syndrome](/source/Smith%E2%80%93Magenis_syndrome),<ref>{{cite journal | vauthors = Hamiel U, Kurolap A, Gadot CC, Mory A, Shira AB, Feldman HB, Marom D | title = Deletion of <i>RAI1</i> noncoding exons 1-2 causes Smith-Magenis syndrome | journal = Journal of Genetics | volume = 104 | issue = 9 | date = 2025 | article-number = 9 | doi = 10.1007/s12041-025-01497-x | pmid = 40386916 }}</ref><ref>{{cite journal | vauthors = Girirajan S, Elsas LJ, Devriendt K, Elsea SH | title = RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions | journal = Journal of Medical Genetics | volume = 42 | issue = 11 | pages = 820–828 | date = November 2005 | pmid = 15788730 | pmc = 1735950 | doi = 10.1136/jmg.2005.031211 }}</ref> whereas duplications of the gene are associated with [Potocki–Lupski syndrome](/source/Potocki%E2%80%93Lupski_syndrome).<ref>{{cite journal | vauthors = Mullegama SV, Alaimo JT, Fountain MD, Burns B, Balog AH, Chen L, Elsea SH | title = <i>RAI1</i> Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome | journal = Journal of Pediatric Genetics | volume = 6 | issue = 3 | pages = 155–164 | date = September 2017 | pmid = 28794907 | pmc = 5548529 | doi = 10.1055/s-0037-1599147 }}</ref>

== See also ==
* [Retinoic acid](/source/Retinoic_acid)

== References ==
{{Reflist}}

== External links ==
* [https://www.ncbi.nlm.nih.gov/books/NBK1310/  GeneReviews/NIH/NCBI/UW entry on Smith-Magenis Syndrome]
* {{MeSH name|RAI1+protein,+human}}

{{biochem-stub}}

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Adapted from the Wikipedia article [RAI1](https://en.wikipedia.org/wiki/RAI1) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/RAI1?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.