Version 2.78

Description

The PARK2 gene (parkin RBR E3 ubiquitin protein ligase) [HGNC Gene ID:8607] is located on chromosome 6q25.2-q27. The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5071] 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
PARK2 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-03-30
Construct for LOINC Short Name
PARK2 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35581-5
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35581-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) PARK2 基因
Synonyms: AR-JP;PARKIN;PDJ;PRKN;巴金森氏症(常染色体隐性, 青少年型) 2 型;帕金森氏症(常染色体隐性, 青少年型) 2 型;常染色体隐性遗传性青少年型帕金森综合征;柏金逊症(常染色体隐性, 青少年型) 2 型;震颤性麻痹(常染色体隐性, 青少年型) 2 型;帕金森病;帕金森氏症;震颤性麻痹;震颤麻痹;巴金森症
et-EE Estonian (Estonia) PARK2 geen
es-ES Spanish (Spain) Gen PARK2
it-IT Italian (Italy) PARK2, gene
Synonyms: Gene PARK2
tr-TR Turkish (Turkey) PARK2 geni
ru-RU Russian (Russian Federation) PARK2 ген
nl-NL Dutch (Netherlands) PARK2-gen
Synonyms: PARK2 gen