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, whereas duplications of the gene are associated with Potocki–Lupski syndrome.
See also Retinoic acid
References
External links GeneReviews/NIH/NCBI/UW entry on Smith-Magenis Syndrome RAI1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)