LP35096-4
PLP1 gene
Active
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 Name
- PLP1 gene
- 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
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PLP1 基因 Synonyms: MMPL; |
| 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 |
| fr-FR | French (France) | PLP1 gène |
| pl-PL | Polish (Poland) | PLP1 gen Synonyms: Gen PLP1 |
| el-GR | Greek (Greece) | Γονίδιο PLP1 Synonyms: Γονίδιο PLP1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://