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].
Slager, Newton, Vlangos, Finucane, Elsea: "Mutations in RAI1 associated with Smith-Magenis syndrome." in: Nature genetics, Vol. 33, Issue 4, pp. 466-8, (2003) (PubMed).
Toulouse, Rochefort, Roussel, Joober, Rouleau: "Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia." in: Genomics, Vol. 82, Issue 2, pp. 162-71, (2003) (PubMed).
Bi, Yan, Stankiewicz, Park, Walz, Boerkoel, Potocki, Shaffer, Devriendt, Nowaczyk, Inoue, Lupski: "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse." in: Genome research, Vol. 12, Issue 5, pp. 713-28, (2002) (PubMed).
Aliases for RAI1 抗体
retinoic acid induced 1 (RAI1) 抗体 retinoic acid induced 1 (Rai1) 抗体 similar to S. cerevisiae RAI1 which enhances function of nuclear exonuclease Rat1 (RAI1) 抗体 Gt1 抗体 RAI1 抗体 SMCR 抗体 SMS 抗体