LP66646-8
RAI1 gene
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Descriptions
The retinoic acid induced 1 (RAI1) gene, located in the 17p11.2 region, is the causative gene for Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS). SMS and PTLS are characterized by multiple congenital anomalies and mental retardation resulting from either a deletion (SMS) or duplication (PTLS) of the 17p11.2 chromosome region. The disorders are diagnosed using a combination of clinically recognized phenotypes and molecular cytogenetic analyses, including fluorescent in situ hybridization (FISH). Clinically, PTLS presents as a milder syndrome than SMS. Source: Regenstrief LOINC, PMID: 18373405
The RAI1 gene (retinoic acid induced 1) [HGNC Gene ID:9834] is located on chromosome 17p11.2. 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] [NCBI Gene ID:10743] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- RAI1 gene
- Part Display Name
- RAI1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-02-05
- Construct for LOINC Short Name
- RAI1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | RAI1 基因 Synonyms: DKFZp434A139; |
| et-EE | Estonian (Estonia) | RAI1 geen |
| es-ES | Spanish (Spain) | Gen RAI1 |
| it-IT | Italian (Italy) | RAI1, gene Synonyms: Gene RAI1 |
| tr-TR | Turkish (Turkey) | RAI1 geni |
| ru-RU | Russian (Russian Federation) | RAI1 ген |
| nl-NL | Dutch (Netherlands) | RAI1-gen Synonyms: RAI1 gen |
| fr-FR | French (France) | RAI1 gène |
| pl-PL | Polish (Poland) | RAI1 gen Synonyms: Gen RAI1 |
| el-GR | Greek (Greece) | Γονίδιο RAI1 Synonyms: Γονίδιο RAI1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://