Version 2.77

Part Description

LP190759-3   PARK7 gene
The PARK7 gene (parkinson protein 7) [HGNC Gene ID: 16369] is located on chromosome 1p36.23. The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008][NCBI Gene ID: 11315] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
PARK7 gene deletion
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
PARK7 gene Del Bld/T
Display Name
PARK7 gene del Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
PARK7 gene deletion analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen PARK7 Deleción:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Deleción del gen PARK7:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) PARK7 gène délétion:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) PARK7, gene Delezione:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Delezione o duplicazione genica Gene PARK7 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) PARK7-gen deletie:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen PARK7 gen
tr-TR Turkish (Turkey) PARK7 geni delesyon:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) PARK7 基因 缺失:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 帕金森病（帕金森氏病、巴金森氏病） (常染色体隐性, 早发型（早发性、早发）) 7;Parkinson disease (autosomal recessive, early onset) 7;帕金森蛋白 7;Parkinson 蛋白 7;Parkinson Protein 7;DJ-1;DJ1;FLJ27376;FLJ34360;FLJ92274 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=95283-8