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Protein Coding Gene : Pmp2 peripheral myelin protein 2

Primary Identifier  MGI:102667 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  18857
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable cholesterol binding activity and fatty acid binding activity. Acts upstream of or within membrane organization. Predicted to be located in cytoplasm and myelin sheath. Predicted to be active in cytosol and nucleus. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 1G. Orthologous to human PMP2 (peripheral myelin protein 2).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a temporary reduction in motor nerve conduction velocity and transitory alterations in the lipid profile of peripheral myelin but no major defects in general PNS myelin structure. [provided by MGI curators]
  • synonyms:
  • peripheral myelin protein 2,
  • P2,
  • MGD-MRK-19568,
  • Pmp2

Features --> Cross References

Genome

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0 Involved In Mutations

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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

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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