| Primary Identifier | MGI:97623 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 18823 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Predicted to be a structural constituent of myelin sheath. Involved in positive regulation of gene expression. Acts upstream of or within inflammatory response; 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] |
Features --> Cross References
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
