Version 2.78

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

Fully-Specified Name

Component
PLP1 gene duplication
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

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

Basic Attributes

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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen PLP1 Duplicación:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Duplicación del gen PLP1:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) PLP1 gène duplication:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (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-KR Korean (Korea, Republic Of) PLP1 유전자 중복:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) PLP1-gen duplicatie:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen PLP1 gen
pt-BR Portuguese (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-RU Russian (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-TR Turkish (Turkey) PLP1 geni dublikasyon:Sç:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: çiftleme
zh-CN Chinese (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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=42179-2