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Gene: PLP1 (proteolipid protein 1) Homo sapiens
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Symbol: PLP1
Name: proteolipid protein 1
Description: This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein 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 Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GPM6C; HLD1; lipophilin; major myelin proteolipid protein; MMPL; myelin proteolipid protein; PLP; PLP/DM20; PMD; proteolipid protein; proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated); SPG2
Orthologs:
Mus musculus (house mouse) : Plp1 (proteolipid protein (myelin) 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Plp1 (proteolipid protein 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Plp1 (proteolipid protein 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PLP1 (proteolipid protein 1)
Canis lupus familiaris (dog) : PLP1 (proteolipid protein 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Plp1 (proteolipid protein 1)
Sus scrofa (pig) : PLP1 (proteolipid protein 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X103,776,506 - 103,792,619 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X103,031,439 - 103,047,548 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X102,918,410 - 102,934,204 (+)NCBINCBI36hg18NCBI36
Build 34X102,837,898 - 102,853,690NCBI
CeleraX103,470,449 - 103,486,558 (+)NCBI
Cytogenetic MapXq22.2NCBI
HuRefX92,687,547 - 92,703,609 (+)NCBIHuRef
CHM1_1X102,924,421 - 102,940,535 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PLP1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732304
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-30
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.