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Gene : PLP1 Homo sapiens

Name  ? proteolipid protein 1 Cytological Location  Xq22.2
Brief Description  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]
  • synonyms:
  • PLP,
  • OTTHUMG00000022111,
  • PLP1,
  • HLD1,
  • PLP/DM20,
  • uc033epn.2,
  • GPM6C,
  • HGNC:9086,
  • Pelizaeus-Merzbacher disease,
  • PLP,
  • PMD,
  • spastic paraplegia 2, uncomplicated,
  • MMPL,
  • SPG2,
  • GPM6C,
  • SPG2,
  • M27110,
  • NM_000533
  • identifiers:
  • 5354,
  • ENSG00000123560,
  • PLP1

Genome feature

Region: gene ? Length: 16114  
Location: X:103776506-103792619 Cyto location: Xq22.2

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0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]


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Gene --> Orthologues


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

10 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results