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
- Involved in myelination. Predicted to localize to integral component of membrane and plasma membrane. Human ortholog(s) of this gene implicated in Pelizaeus-Merzbacher disease and hereditary spastic paraplegia 2. Is expressed in central nervous system; glial cell; and neural tube. Orthologous to human PLP1 (proteolipid protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 46 figures from 25 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