Version 2.78

Description

The PAX3 gene (paired box 3) [HGNC Gene ID:8617] is located on chromosome 2q35. This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5077] 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
PAX3 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-10
Construct for LOINC Short Name
PAX3 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33145-1
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP33145-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) PAX3 基因
Synonyms: CDHS;HUP2;Waardenburg 综合征 1 型;Waardenburg 综合征 I 型;WS1;成对结构域基因 3;成对结构域基因 HUP2;配对域基因 3;配对域基因 HUP2;配对结构域基因 3;配对结构域基因 HUP2
et-EE Estonian (Estonia) PAX3 geen
es-ES Spanish (Spain) Gen PAX3
it-IT Italian (Italy) PAX3, gene
Synonyms: Gene PAX3
tr-TR Turkish (Turkey) PAX3 geni
ru-RU Russian (Russian Federation) PAX3 ген
nl-NL Dutch (Netherlands) PAX3-gen
Synonyms: PAX3 gen