Defects in Retinoic acid-induced protein 1 (RAI1) are a cause of Smith-Magenis syndrome (SMS) [MIM:182290]. SMS is characterized by congenital mental retardation associated with development and growth delays. The RAI1 has also been associated with schizophrenia [taken from the Universal Protein Resource (UniProt) www.uniprot.org/uniprot/Q7Z5J4].
Alternative names for
RAI1 Antibody include SMS antibody, SMCR antibody, KIAA1820 antibody.