Version 2.78

Description

The JAG1 gene (jagged 1) [HGNC Gene ID:6188] is located on chromosome 20p12.1-p11.23. The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008] [NCBI Gene ID:182] 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
JAG1 gene
Part Display Name
JAG1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2006-12-12
Construct for LOINC Short Name
JAG1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP61782-6
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP61782-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) JAG1 基因
Synonyms: AGS;AHD;Alagille 综合征;AWS;CD339 抗原;HJ1;Jagged1;Jagged-1 前体;JAGL1;MGC104644;ToF;阿拉日耶综合征;阿拉日耶综合征（Alagille syndrome）
et-EE Estonian (Estonia) JAG1 geen
es-ES Spanish (Spain) Gen JAG1
it-IT Italian (Italy) JAG1, gene
Synonyms: Gene JAG1
tr-TR Turkish (Turkey) JAG1 geni
ru-RU Russian (Russian Federation) JAG1 ген
nl-NL Dutch (Netherlands) JAG1-gen
Synonyms: JAG1 gen