Version 2.78

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 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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP32799-6
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP32799-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) NR0B1 基因
Synonyms: AHC;AHCH;AHCX;DAX1;先天性肾上腺发育不全;先天性肾上腺发育不良;先天性肾上腺发育不良症
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