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Protein Coding Gene : Plp1 proteolipid protein (myelin) 1

Primary Identifier  MGI:97623 Organism  Mus musculus
Chromosome  X NCBI Gene Number  18823
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 5.2.1)

Predicted to enable identical protein binding activity. Predicted to be a structural constituent of myelin sheath. Acts upstream of or within several processes, including cell maturation; long-chain fatty acid biosynthetic process; and neurogenesis. Located in myelin sheath. Is expressed in several structures, including alimentary system; integumental system; musculature; nervous system; and sensory organ. Used to study Pelizaeus-Merzbacher disease and hereditary spastic paraplegia 2. Human ortholog(s) of this gene implicated in Pelizaeus-Merzbacher disease and hereditary spastic paraplegia 2. Orthologous to human PLP1 (proteolipid protein 1).
PHENOTYPE: Males hemizygous for X-linked missense and partially deleted mutations typically exhibit central nervous system demyelination, loss of oligodendrocytes, tremors, convulsions, and lethality, but targeted null mutants are essentially normal and fertile. [provided by MGI curators]
  • synonyms:
  • jp,
  • proteolipid protein (myelin) 1,
  • MGD-MRK-12562,
  • rsh,
  • MGD-MRK-11530,
  • rump shaker,
  • msd,
  • proteolipid protein (myelin),
  • Plp1,
  • MGD-MRK-14219,
  • jimpy,
  • DM20,
  • myelin synthesis deficiency,
  • MGD-MRK-13363,
  • Plp

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

4 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

486 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications