This article is about the protein. For the Italian television channel, see Rai 1.

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

References

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