LP32799-6
NR0B1 gene
Active
Description
The NR0B1 gene (nuclear receptor subfamily 0, group B, member 1) [HGNC Gene ID:7960] is located on chromosome Xp21.3. This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008] [NCBI Gene ID:190] 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
- NR0B1 gene
- Part Display Name
- NR0B1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-11-05
- Construct for LOINC Short Name
- NR0B1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | NR0B1 基因 Synonyms: AHC; |
| et-EE | Estonian (Estonia) | NR0B1 geen |
| es-ES | Spanish (Spain) | Gen NR0B1 |
| it-IT | Italian (Italy) | NR0B1, gene Synonyms: Gene NR0B1 |
| tr-TR | Turkish (Turkey) | NR0B1 geni |
| ru-RU | Russian (Russian Federation) | NR0B1 ген |
| nl-NL | Dutch (Netherlands) | NR0B1-gen Synonyms: NR0B1 gen |
| fr-FR | French (France) | NR0B1 gène |
| pl-PL | Polish (Poland) | NR0B1 gen Synonyms: Gen NR0B1 |
| el-GR | Greek (Greece) | Γονίδιο NR0B1 Synonyms: Γονίδιο NR0B1 |
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://