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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PLP1 Gene

protein-coding GIFtS: 63
GCID: GC0XP103028

proteolipid protein 1

(Previous names: spastic paraplegia 2, uncomplicated )
(Previous symbols: SPG2, PLP)

Explore 65 diseases affiliated with
PLP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Proteolipid Protein 1¹ ²		MMPL²
PLP¹ ² ³		PLP/DM20²
SPG2¹ ²		Lipophilin³
HLD1² ⁵		Major Myelin Proteolipid Protein²
PMD² ⁵		Myelin Proteolipid Protein²
Spastic Paraplegia 2, Uncomplicated¹		Lipophilin³

External Ids:	HGNC: 9086¹	Entrez Gene: 5354²	Ensembl: ENSG00000123560⁷	OMIM: 300401⁵	UniProtKB: P60201³

Export aliases for PLP1 gene to outside databases

Previous GC identifers: GC0XP098333 GC0XP099940 GC0XP101064 GC0XP101803 GC0XP102837 GC0XP102918 GC0XP092687

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PLP1:

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)

UniProtKB/Swiss-Prot: MYPR_HUMAN, P60201

Function: This is the major myelin protein from the central nervous system. It plays an important role in the formation

or maintenance of the multilamellar structure of myelin

Gene Wiki entry for PLP1 (Proteolipid protein 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011651.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PLP1 gene promoter:
Nkx3-1 v2 Nkx3-1 HEN1 Nkx3-1 v1 Nkx2-5 GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PLP1 promoter sequence

Search SABiosciences Chromatin IP Primers for PLP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PLP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22 Ensembl cytogenetic band: Xq22.2 HGNC cytogenetic band: Xq22

PLP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLP1 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP103028: view genomic region (about GC identifiers)

Start:	103,028,647 bp from pter	End:	103,047,548 bp from pter
Size:	18,902 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MYPR_HUMAN, P60201 (See protein sequence)

Recommended Name: Myelin proteolipid protein

Size: 277 amino acids; 30077 Da

Subcellular location: Membrane; Multi-pass membrane protein

1 PDB 3D structure from and Proteopedia for PLP1:

2XPG (3D)

Secondary accessions: P04400 P06905 Q502Y1 Q6FHZ6

Alternative splicing: 2 isoforms: P60201-1 P60201-2

Explore the universe of human proteins at neXtProt for PLP1: NX_P60201

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P60201

PLP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000524.3 NP_001122306.1 NP_955772.1

ENSEMBL proteins:

ENSP00000403335 ENSP00000399913 ENSP00000409802 ENSP00000413931 ENSP00000393391

ENSP00000391853 ENSP00000305152 ENSP00000354860 ENSP00000405750

Human Recombinant Protein Products:

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	Novus Biologicals PLP1 Protein Novus Biologicals PLP1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PLP1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--
GO:0043209	myelin sheath	IEA	--
GO:0043218	compact myelin	--	--

PLP1 for ontologies About GeneDecksing

PLP1 Antibody Products:

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	ThermoFisher Antibodies for PLP1

Assay Products for PLP1:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for PLP1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PLP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PLP1 for domains About GeneDecksing

2 InterPro domains/families:

IPR001614 Myelin_PLP

IPR018237 Myelin_PLP_CS

Graphical View of Domain Structure for InterPro Entry P60201

ProtoNet protein and cluster: P60201

UniProtKB/Swiss-Prot: MYPR_HUMAN, P60201

Similarity: Belongs to the myelin proteolipid protein family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MYPR_HUMAN, P60201

Function: This is the major myelin protein from the central nervous system. It plays an important role in the formation

or maintenance of the multilamellar structure of myelin

Genatlas biochemistry entry for PLP1:

CNS myelin proteolipid protein (lipophilin),structural major protein expressed in myelin,also expressed in Schwann cell

miRNA Products:		OriGene 3'-UTR Clone (see all 3): PLP1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLP1
		8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate PLP1 (see all 47):
		hsa-miR-26a-2* hsa-miR-29a hsa-miR-3074-3p hsa-miR-578 hsa-miR-570 hsa-miR-629* hsa-miR-30c-2* hsa-miR-3163

		SwitchGear 3'UTR luciferase reporter plasmid: PLP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PLP1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLP1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLP1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): PLP1 (NM_001024807)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PLP1
		Search LifeMap BioReagents cell lines for PLP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLP1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005198	structural molecule activity	TAS	2479017
GO:0005515	protein binding	--	--
GO:0019911	structural constituent of myelin sheath	IEA	--

PLP1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for PLP1:

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for PLP1: Plp1^tm1Wst Plp1^tm3Wst Plp1^tm1Kan Plp1^tm2Wst Plp1^tm1Gow
10 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Plp1):

behavior/neurological	cellular	growth/size	hematopoietic system	homeostasis/metabolism
immune system	mortality/aging	nervous system	reproductive system	vision/eye

PLP1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glial Cell Differentiation

Glial Cell Differentiation

1.00

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

1.00

2 BioSystems Pathways for PLP1

	SIDS Susceptibility Pathways
	Glial Cell Differentiation

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PLP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/13 Interacting proteins for PLP1 (P60201³ ENSP00000305152⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALR	P27797³, ENSP00000320866⁴	I2D: score=1 STRING: ENSP00000320866
ITGAV	P06756³, ENSP00000261023⁴	I2D: score=1 STRING: ENSP00000261023
MBP	P02686³, ENSP00000348273⁴	I2D: score=2 STRING: ENSP00000348273
CANX	P27824³, ENSP00000247461⁴	I2D: score=1 STRING: ENSP00000247461
DLG4	P78352³	I2D: score=1

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007229	integrin-mediated signaling pathway	IEA	--
GO:0007268	synaptic transmission	TAS	2479017
GO:0008219	cell death	IEA	--
GO:0008366	axon ensheathment	TAS	2479017
GO:0010001	glial cell differentiation	--	--

PLP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PLP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PLP1
10/32 Novoseek chemical compound relationships for PLP1 gene (see all 32) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
2',3'-cyclic nucleotide	80.9	12	8416742 (1), 1383426 (1), 19187445 (1), 19473295 (1) (see all 10)
2-chloroethanol	54.8	2	7516154 (1), 1700070 (1)
n-acetylaspartate	43.3	4	11274318 (1), 11872612 (1), 11805250 (1)
zma	43.1	2	8012387 (1), 12210342 (1)
dimyristoylphosphatidylcholine	42.1	4	8386549 (1), 12512771 (1), 7682453 (1), 10587458 (1)
glatiramer acetate	35	5	8965119 (2), 9846830 (2), 8965116 (1)
sulfatide	25.9	1	9482258 (1)
inositol	18.1	3	8910382 (2)
lipid	12.4	16	9858696 (4), 2223804 (2), 15670733 (2), 2161249 (1) (see all 10)
hydroxylamine	10.8	1	1700070 (1)

Search CenterWatch for drugs/clinical trials and news about PLP1 / MYPR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PLP1 gene (3 alternative transcripts):

NM_000533.3 NM_001128834.1 NM_199478.1

Unigene Cluster for PLP1:

Proteolipid protein 1

Hs.1787 [show with all ESTs]

Unigene Representative Sequence: NM_001128834

18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):

ENST00000434483 ENST00000429977 ENST00000455268 ENST00000422393 ENST00000433491

ENST00000443502 ENST00000303958(uc004elk.3 uc011msf.2 uc010nox.3)

ENST00000361621(uc004elj.3) ENST00000494475 ENST00000464776 ENST00000465975

ENST00000480325 ENST00000485931(uc010now.1) ENST00000495678 ENST00000479569

ENST00000485688 ENST00000478642 ENST00000461231

miRNA Products:		OriGene 3'-UTR Clone (see all 3): PLP1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PLP1
		8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate PLP1 (see all 47):
		hsa-miR-26a-2* hsa-miR-29a hsa-miR-3074-3p hsa-miR-578 hsa-miR-570 hsa-miR-629* hsa-miR-30c-2* hsa-miR-3163

		SwitchGear 3'UTR luciferase reporter plasmid: PLP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PLP1 (see all 7) OriGene shRNA RFP: PLP1 OriGene siRNA: PLP1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PLP1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PLP1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PLP1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): PLP1 (NM_001024807)
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PLP1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PLP1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PLP1

Additional cDNA sequence:

AK128782.1 AK292728.1 AK295374.1 AK295388.1 AK308966.1 AK309239.1 AK312340.1 BC002665.1

BC095452.1 BT019601.1 BT019602.1 CR536542.1 M17085.1 M27110.1 M54927.1

24/74 DOTS entries (see all 74):

DT.101957760 DT.449979 DT.92459596 DT.100792568 DT.100742968 DT.100792566 DT.100775555 DT.101954984

DT.121300866 DT.121300831 DT.100792561 DT.101976431 DT.121300943 DT.91677241 DT.121300854 DT.95197715

DT.121300926 DT.121300894 DT.92459588 DT.121300934 DT.92459589 DT.95113028 DT.100792567 DT.121300942

24/786 AceView cDNA sequences (see all 786):

BF724749 BQ716187 AL539391 BQ883015 CB121666 BU166118 BP348590 BP360580

AA350915 BQ893111 AA348830 BQ716611 AA348387 N53330 BF445593 BQ721281

N62804 AA350936 F03099 BP348544 BQ722967 BC002665 BP362191 AA984768

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for PLP1 (see all 13) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	·	7c	·	7d	·	7e	·	7f	·	7g	^	8a	·	8b	·	8c	·	8d	·	8e	^	9a	·	9b	·	9c	^	10a	·
SP1:									-		-								-		-						-		-		-		-		-														-		-
SP2:									-		-								-		-								-		-		-		-														-		-
SP3:									-		-								-		-								-		-		-		-
SP4:																																																	-		-
SP5:																			-		-								-		-		-		-

ExUns:	10b	·	10c	^	11a	·	11b	·	11c	·	11d
SP1:	-
SP2:	-
SP3:
SP4:	-
SP5:

ECgene alternative splicing isoforms for PLP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PLP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CATACATACA

About this image

PLP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Blood Brain Barrier

Adult Endothelial Cells

Blood Brain Barrier, Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

GABA neuron-like cells (Generation of motor ...)

Brain

Matrigel embedded cells (Derivation of cardio...)

See PLP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PLP1

SOURCE GeneReport for Unigene cluster: Hs.1787

SABiosciences Expression via Pathway-Focused PCR Arrays including PLP1:

Multiple Sclerosis in human mouse rat

Neurotoxicity in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PLP1 gene from 6/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PLP1¹	proteolipid protein 1 (Pelizaeus-Merzbacher disease, more	84(n) 93.5(a)		396214 NM_205277.1 NP_990608.1
lizard (Anolis carolinensis)	Reptilia	PLP1⁶	--	81(a)	1 ↔ 1	GL343686.1(95774-101181)
African clawed frog (Xenopus laevis)	Amphibia	LOC398334²	myelin proteolipid protein (PLP)	77.7(n)		Z19522.1
zebrafish (Danio rerio)	Actinopterygii	plp1a¹	proteolipid protein 1a	61.2(n) 60.5(a)		64264 NM_175576.2 NP_783166.1
fruit fly (Drosophila melanogaster)	Insecta	M6⁶	M6	17(a)	1 → many	3L(21500952-21505849)
worm (Caenorhabditis elegans)	Secernentea	nmgp-1⁶	Neuronal Membrane GlycoProtein family member (nmgp...	13(a)	1 → many	II(6260959-6262493)

ENSEMBL Gene Tree for PLP1 (if available)
TreeFam Gene Tree for PLP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PLP1 gene

GPM6A² GPM6B²

3 SIMAP similar genes for PLP1 using alignment to 8 protein entries: MYPR_HUMAN (see all proteins):

PLP GPM6B GPM6A

PLP1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11543022^1,2	C,H	pathogenic	103040550(+)	`GGCCCC/G/TCTTTG`	9	P R L	mis¹ ese³		5		NS EA NA	396
rs67533285^1,2	C,	--	103029582(+)	`CAGAC-/ACAT AGAGA`	1	--	us2k¹		0	--	--	--	--
rs10581331^1,2	C	--	103029583(+)	`AGACA-/CATA GAGAG`	1	--	us2k¹		0	--	--	--	--
rs143752119^1,2		--	103029845(+)	`CCCTGG/TGTGGA`	3	--	us2k¹		0	--	--	--	--
rs183500507^1,2		--	103030054(+)	`GTTGAA/GCTTCC`	3	--	us2k¹		0	--	--	--	--
rs475827^1,2	C,F,O,H,	--	103030072(-)	`ACAGAT/CTATGC`	3	--	us2k¹		21		NA EA NS CSA	2569
rs186429139^1,2		--	103030084(+)	`GCTGGC/TGAGCA`	3	--	us2k¹		0	--	--	--	--
rs191744226^1,2		--	103030085(+)	`CTGGCA/GAGCAG`	3	--	us2k¹		0	--	--	--	--
rs2858189^1,2	H	--	103030399(+)	`AGACAC/GAATCT`	3	--	us2k¹		4		NS EA	418
rs2858191^1,2	H	--	103030483(+)	`AAAATC/GACAGG`	3	--	us2k¹		4		NS EA	416

HapMap Linkage Disequilibrium report for PLP1 (103028647 - 103047548 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PLP1
1 Inversion: 59882
Human Gene Mutation Database (HGMD): PLP1

Locus Specific Mutation Databases (LSDB): PLP1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PLP1

DNA2.0 Custom Variant and Variant Library Synthesis for PLP1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PLP1 for disorders           About GeneDecksing

OMIM gene information: 300401
OMIM disorders: 312080  312920
UniProtKB/Swiss-Prot: MYPR_HUMAN, P60201

Defects in PLP1 are the cause of leukodystrophy hypomyelinating type 1 (HLD1) [MIM:312080]; also known as

Pelizaeus-Merzbacher disease. HLD1 is an X-linked recessive dysmyelinating disorder of the central nervous system in

which myelin is not formed properly. It is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and

developmental delay

Defects in PLP1 are the cause of spastic paraplegia X-linked type 2 (SPG2) [MIM:312920]. SPG2 is characterized

by spastic gait and hyperreflexia. In some patients, complicating features include nystagmus, dysarthria, sensory

disturbance, mental retardation, optic atrophy

20/65 diseases for PLP1 (see all 65): About MalaCards

spastic paraplegia pelizaeus-merzbacher disease paraplegia spasticity

charcot-marie-tooth disease pelizaeus-merzbacher-like disease charcot-marie-tooth disease type x guillain-barre syndrome

niemann-pick disease acid sphingomyelinase deficiency spastic quadriplegia cocaine abuse

optic neuritis myasthenia gravis temporal lobe epilepsy hereditary spastic paraplegia

quadriplegia tooth disease arena syndrome substance abuse

4 diseases from the University of Copenhagen DISEASES database for PLP1:

Pelizaeus-Merzbacher disease Paraplegia Multiple sclerosis Melancholia

10/41 Novoseek disease relationships for PLP1 gene (see all 41) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pelizaeus-merzbacher disease	98.6	147	7574457 (3), 1376553 (2), 7684886 (2), 16774974 (2) (see all 99)
spastic paraplegia	90.7	31	16374829 (2), 7541901 (1), 9268109 (1), 16287154 (1) (see all 25)
leukodystrophy	85.3	19	1376966 (2), 19562355 (1), 10401787 (1), 18470932 (1) (see all 12)
multiple sclerosis	80.8	66	7515411 (3), 1711538 (3), 10613824 (2), 1374422 (2) (see all 43)
encephalomyelitis	78.4	27	8965116 (1), 10613824 (1), 7532182 (1), 1462126 (1) (see all 20)
demyelinating diseases	75.5	12	1701788 (1), 10493736 (1), 12355425 (1), 1462126 (1) (see all 10)
demyelination	72.6	9	7528355 (2), 9590558 (1), 7545859 (1), 10683517 (1) (see all 7)
optic neuritis	57.6	8	7515411 (2), 1373123 (2), 7510787 (1), 7510098 (1) (see all 5)
spastic quadriplegia	55.3	1	18437021 (1)
spastic paraplegia hereditary	55.1	3	7643352 (1), 19955111 (1)

GeneTests: PLP1

PLP1-Related Disorders

Genetic Association Database (GAD): PLP1
Human Genome Epidemiology (HuGE) Navigator: PLP1 (4 documents)

Export disorders for PLP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PLP1 gene, integrated from 9 sources (see all 419):
(articles sorted by number of sources associating them with PLP1)

Utopia: connect your pdf to the dynamic
world of online information

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. (PubMed id 9633722)^{1, 2, 9} Sistermans E.A.... Van Oost B.A. (1998)
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. (PubMed id 15712223)^{1, 2, 9} Huebner C.A.... Gal A. (2005)
A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. (PubMed id 15450775)^{1, 2, 9} Lee E.S....Hobson G.M. (2004)
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. (PubMed id 11093273)^{1, 2, 9} Cailloux F.... Voit T. (2000)
Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred. (PubMed id 7684886)^{1, 2, 9} Pratt V.M....Dlouhy S.R. (1993)
Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein 'PLP' gene. (PubMed id 9747038)^{1, 2, 9} Nagao M. and Kadowaki J. (1998)
Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. (PubMed id 1376966)^{1, 2, 9} Doll R.... Smith F.I. (1992)
A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. (PubMed id 1707231)^{1, 2, 9} Pratt V.M....Hodes M.E. (1991)
Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. (PubMed id 17438221)^{1, 2, 9} Gorman M.P.... Eksioglu Y.Z. (2007)
Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. (PubMed id 10417279)^{1, 2, 9} Mimault C.... Voit T. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5354	HGNC: 9086	AceView: PLP1	Ensembl:ENSG00000123560	euGenes: HUgn5354
ECgene: PLP1	H-InvDB: PLP1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PLP1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLP1

Intellectual Property for PLP1 gene
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Patent Information for PLP1 gene:
Search GeneIP for patents involving PLP1

GeneCards and IP:
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PLP1 Gene

proteolipid protein 1

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