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Description

The PHOX2B gene (paired-like homeobox 2b) [HGNC Gene ID:9143] is located on chromosome 4p12. The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. [provided by RefSeq, Jul 2008] [NCBI Gene ID:8929] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

TypeSourceReference
WebcontentOnline 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
PHOX2B gene
Part Display Name
PHOX2B gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-12-14
Construct for LOINC Short Name
PHOX2B gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP36422-1
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https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP36422-1

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)PHOX2B 基因
Synonyms: CCHS;NBPHOX;PMX2B;先天性中央换气症候群;先天性中枢性换气不足症候群;先天性中枢性换气不足综合征;先天性中枢性通气不足症候群;成对样同源异型盒结构域 2b;配对样同源异型盒结构域 2b
et-EEEstonian (Estonia)PHOX2B geen
es-ESSpanish (Spain)Gen PHOX2B
it-ITItalian (Italy)PHOX2B, gene
Synonyms: Gene PHOX2B
tr-TRTurkish (Turkey)PHOX2B geni
ru-RURussian (Russian Federation)PHOX2B ген
nl-NLDutch (Netherlands)PHOX2B-gen
Synonyms: PHOX2B gen
fr-FRFrench (France)PHOX2B gène
pl-PLPolish (Poland)PHOX2B gen
Synonyms: Gen PHOX2B
el-GRGreek (Greece)Γονίδιο PHOX2B
Synonyms: Γονίδιο PHOX2B