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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

LOINC Names Get Info

Fully-Specified Name
PARK7 gene deletion:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
PARK7 gene deletion in Blood or Tissue by Molecular genetics method
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

Part Model Get Info

  • Component
    PARK7 gene deletion
    LP418903-3
    • Analyte
      PARK7 gene deletion
      LP418903-3
      • Component Numerator
        PARK7 gene deletion
        LP418903-3
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PARK7 delece:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PARK7 διαγραφή:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.DELDUP Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο PARK7 διαγραφή Εύρεση Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen PARK7 Deleción:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Deleción del gen PARK7:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)PARK7 gène délétion:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (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-NLDutch (Netherlands)PARK7-gen deletie:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen PARK7 gen
pl-PLPolish (Poland)PARK7 gen delecja:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: diagnostyka molekularna Gen PARK7
tr-TRTurkish (Turkey)PARK7 geni delesyon:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (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