RAI1 explained

Retinoic acid-induced protein 1 is a transcription factor that in humans is encoded by the RAI1 gene. Mutations or copy number alterations affecting this gene are associated with neurodevelopmental disorders. Deletions of RAI1 are a primary cause of Smith–Magenis syndrome,^{[1] [2]} whereas duplications of the gene are associated with Potocki–Lupski syndrome.^[3]

See also

• Retinoic acid

External links

• GeneReviews/NIH/NCBI/UW entry on Smith-Magenis Syndrome

Notes and References

1. Hamiel U, Kurolap A, Gadot CC, Mory A, Shira AB, Feldman HB, Marom D . Deletion of RAI1 noncoding exons 1-2 causes Smith-Magenis syndrome . Journal of Genetics . 104 . 9 . 2025 . 9 . 10.1007/s12041-025-01497-x . 40386916 .
2. Girirajan S, Elsas LJ, Devriendt K, Elsea SH . RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions . Journal of Medical Genetics . 42 . 11 . 820–828 . November 2005 . 15788730 . 1735950 . 10.1136/jmg.2005.031211 .
3. Mullegama SV, Alaimo JT, Fountain MD, Burns B, Balog AH, Chen L, Elsea SH . RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome . Journal of Pediatric Genetics . 6 . 3 . 155–164 . September 2017 . 28794907 . 5548529 . 10.1055/s-0037-1599147 .