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Part Description

LP35096-4   PLP1 gene
The PLP1 gene (proteolipid protein 1) [HGNC Gene ID:9086] is located on chromosome Xq22. This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5354] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
PLP1 gene duplication:Arb:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
PLP1 gene duplication [Presence] in Blood or Tissue by Molecular genetics method
Short Name
PLP1 gene Dp Bld/T Ql
Display Name
PLP1 gene dup Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
PLP1 gene duplication analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    PLP1 gene duplication
    LP229352-2
    • Analyte
      PLP1 gene duplication
      LP229352-2
      • Component Numerator
        PLP1 gene duplication
        LP229352-2
        • Component Numerator Core
          PLP1 gene
          LP35096-4
        • Component Numerator Core Suffix
          duplication
          LP36156-5
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Arb
    LP6781-1
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.16
Last Updated
Version 2.21 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PLP1 duplikace:Arbitrární:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PLP1 διπλασιασμός:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: Arb MOLPATH MOLPATH.MUT Ord Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο PLP1 διπλασιασμός Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen PLP1 Duplicación:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Duplicación del gen PLP1:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)PLP1 gène duplication:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)PLP1, gene, duplicazione:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene PLP1 Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)PLP1 유전자 중복:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NLDutch (Netherlands)PLP1-gen duplicatie:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen PLP1 gen
pl-PLPolish (Poland)PLP1 gen duplikacja:jednostka umowna:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen PLP1
pt-BRPortuguese (Brazil)PLP1 duplicação do gene:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: PLP; MMPL; PLP/DM20; PMD; SPG2; Lipophilin; Major myelin proteolipid protein gene; Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Dp; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)PLP1 ген дупликация:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)PLP1 geni dublikasyon:Sç:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: çiftleme
zh-CNChinese (China)PLP1 基因 复制:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: MMPL;Pelizaeus-Merzbacher 氏症;Pelizaeus-Merzbacher 病, 痉挛性截瘫 2, 简单型（Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated）;Pelizaeus-Merzbacher 病, 痉挛性截瘫 2, 非合并型（Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated）;PLP;PLP/DM20;PMD 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 基因复制;基因重复;重复 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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