Version 2.78

Description

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

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
PLP1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-02-17
Construct for LOINC Short Name
PLP1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35096-4
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35096-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) PLP1 基因
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
et-EE Estonian (Estonia) PLP1 geen
es-ES Spanish (Spain) Gen PLP1
it-IT Italian (Italy) PLP1, gene
Synonyms: Gene PLP1
tr-TR Turkish (Turkey) PLP1 geni
ru-RU Russian (Russian Federation) PLP1 ген
nl-NL Dutch (Netherlands) PLP1-gen
Synonyms: PLP1 gen