Retinoic Acid Induced 1 (RAI1) Antibody – Rabbit Polyclonal

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]

RAI1: May function as a transcriptional regulator. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation. Defects in RAI1 are a cause of Smith-Magenis syndrome (SMS). SMS is characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription factor

Chromosomal Location of Human Ortholog: 17p11.2

Cellular Component: nucleoplasm; mitochondrion; nucleus

Molecular Function: zinc ion binding

Biological Process: regulation of transcription from RNA polymerase II promoter; negative regulation of multicellular organism growth; positive regulation of transcription, DNA-dependent; circadian regulation of gene expression; skeletal development

Disease: Smith-magenis Syndrome