Gene
plp1a
- ID
- ZDB-GENE-001202-1
- Name
- proteolipid protein 1a
- Symbol
- plp1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to be a structural constituent of myelin sheath. Acts upstream of or within myelination. Predicted to be located in membrane. Predicted to be active in myelin sheath and plasma membrane. Is expressed in central nervous system; glial cell; and neural tube. Human ortholog(s) of this gene implicated in Pelizaeus-Merzbacher disease and hereditary spastic paraplegia 2. Orthologous to human PLP1 (proteolipid protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 47 figures from 26 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 2 | Alliance | Spastic paraplegia 2, X-linked | 312920 |
| Pelizaeus-Merzbacher disease | Alliance | Pelizaeus-Merzbacher disease | 312080 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Myelin proteolipid protein PLP | Myelin proteolipid protein PLP, conserved site |
|---|---|---|---|
|
UniProtKB:Q8UUT6
|
245 |
Interactions and Pathways
No data available
Plasmids
No data available